| 11593693 | CV294548 | single nucleotide variant | NM_004407.4(DMP1):c.*35G>A | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000351172]|not provided [RCV004716288] | benign | 4 | 87663355 | 87663355 | Human | 1 | name |
| 11662563 | CV299866 | single nucleotide variant | NM_004407.4(DMP1):c.*61C>T | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000387135] | uncertain significance | 4 | 87663381 | 87663381 | Human | 1 | name |
| 28887263 | CV892459 | single nucleotide variant | NM_004407.4(DMP1):c.*27C>T | Hypophosphatemic rickets, autosomal recessive, 1 [RCV001151400] | uncertain significance | 4 | 87663347 | 87663347 | Human | 1 | name |
| 28887268 | CV892460 | single nucleotide variant | NM_004407.4(DMP1):c.*77T>C | Hypophosphatemic rickets, autosomal recessive, 1 [RCV001151401]|not provided [RCV004694948] | uncertain significance | 4 | 87663397 | 87663397 | Human | 1 | name |
| 8560548 | CV23613 | single nucleotide variant | NM_004407.4(DMP1):c.55-1G>C | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000009105]|not provided [RCV002512929] | pathogenic|likely pathogenic | 4 | 87657031 | 87657031 | Human | 1 | name |
| 11637716 | CV272449 | single nucleotide variant | NM_004407.4(DMP1):c.55-3T>G | Hypophosphatemic rickets, autosomal recessive, 1 [RCV001156717]|not provided [RCV000289378] | uncertain significance | 4 | 87657029 | 87657029 | Human | 1 | name |
| 11598338 | CV294550 | single nucleotide variant | NM_004407.4(DMP1):c.*329A>C | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000404189]|not provided [RCV004716289] | benign|likely benign | 4 | 87663649 | 87663649 | Human | 1 | name |
| 11592965 | CV294551 | single nucleotide variant | NM_004407.4(DMP1):c.*457T>C | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000343890]|not provided [RCV004716290] | benign|likely benign | 4 | 87663777 | 87663777 | Human | 1 | name |
| 11645273 | CV294553 | single nucleotide variant | NM_004407.4(DMP1):c.*695T>A | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000264455] | uncertain significance | 4 | 87664015 | 87664015 | Human | 1 | name |
| 11584723 | CV294557 | single nucleotide variant | NM_004407.4(DMP1):c.*918T>G | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000276060] | uncertain significance | 4 | 87664238 | 87664238 | Human | 1 | name |
| 11593316 | CV296097 | single nucleotide variant | NM_004407.4(DMP1):c.*280C>T | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000347540]|not provided [RCV001692007] | benign|likely benign | 4 | 87663600 | 87663600 | Human | 1 | name |
| 11663301 | CV296101 | single nucleotide variant | NM_004407.4(DMP1):c.*602C>A | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000394409] | uncertain significance | 4 | 87663922 | 87663922 | Human | 1 | name |
| 11590074 | CV296104 | single nucleotide variant | NM_004407.4(DMP1):c.*905A>G | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000315740] | benign|likely benign | 4 | 87664225 | 87664225 | Human | 1 | name |
| 11634963 | CV299783 | single nucleotide variant | NM_004407.4(DMP1):c.*159T>A | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000292849]|not provided [RCV004695815] | uncertain significance | 4 | 87663479 | 87663479 | Human | 1 | name |
| 11588613 | CV299784 | single nucleotide variant | NM_004407.4(DMP1):c.*603C>T | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000304462] | benign|likely benign | 4 | 87663923 | 87663923 | Human | 1 | name |
| 11582539 | CV299789 | single nucleotide variant | NM_004407.4(DMP1):c.*850G>A | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000260449] | uncertain significance | 4 | 87664170 | 87664170 | Human | 1 | name |
| 11589056 | CV299871 | single nucleotide variant | NM_004407.4(DMP1):c.*373T>A | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000307753] | uncertain significance | 4 | 87663693 | 87663693 | Human | 1 | name |
| 11594426 | CV299873 | single nucleotide variant | NM_004407.4(DMP1):c.*607A>G | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000359119]|not provided [RCV004716291] | benign | 4 | 87663927 | 87663927 | Human | 1 | name |
| 11659146 | CV299874 | single nucleotide variant | NM_004407.4(DMP1):c.*791A>C | Hypophosphatemic Rickets, Recessive [RCV000355203] | uncertain significance | 4 | 87664111 | 87664111 | Human | 1 | name |
| 11666539 | CV353673 | deletion | NM_004407.4(DMP1):c.-112del | Hypophosphatemic Rickets, Recessive [RCV000354334] | likely benign | 4 | 87650293 | 87650293 | Human | 1 | name |
| 597943714 | CV3782666 | single nucleotide variant | NM_004407.4(DMP1):c.55-2A>T | not provided [RCV005134206] | pathogenic | 4 | 87657030 | 87657030 | Human | | name |
| 28895809 | CV892461 | single nucleotide variant | NM_004407.4(DMP1):c.*131T>C | Hypophosphatemic rickets, autosomal recessive, 1 [RCV001154422] | uncertain significance | 4 | 87663451 | 87663451 | Human | 1 | name |
| 28895812 | CV892462 | single nucleotide variant | NM_004407.4(DMP1):c.*380C>T | Hypophosphatemic rickets, autosomal recessive, 1 [RCV001154423] | benign | 4 | 87663700 | 87663700 | Human | 1 | name |
| 28895819 | CV892463 | single nucleotide variant | NM_004407.4(DMP1):c.*438G>T | Hypophosphatemic rickets, autosomal recessive, 1 [RCV001154424] | uncertain significance | 4 | 87663758 | 87663758 | Human | 1 | name |
| 28898017 | CV892464 | single nucleotide variant | NM_004407.4(DMP1):c.*527G>A | Hypophosphatemic rickets, autosomal recessive, 1 [RCV001155260] | uncertain significance | 4 | 87663847 | 87663847 | Human | 1 | name |
| 28898019 | CV892465 | single nucleotide variant | NM_004407.4(DMP1):c.*799T>C | Hypophosphatemic rickets, autosomal recessive, 1 [RCV001155261] | uncertain significance | 4 | 87664119 | 87664119 | Human | 1 | name |
| 28898023 | CV892466 | single nucleotide variant | NM_004407.4(DMP1):c.*808G>A | Hypophosphatemic rickets, autosomal recessive, 1 [RCV001155262] | uncertain significance | 4 | 87664128 | 87664128 | Human | 1 | name |
| 28901970 | CV892467 | single nucleotide variant | NM_004407.4(DMP1):c.*875T>C | Hypophosphatemic rickets, autosomal recessive, 1 [RCV001156931] | uncertain significance | 4 | 87664195 | 87664195 | Human | 1 | name |
| 28901974 | CV892468 | single nucleotide variant | NM_004407.4(DMP1):c.*898G>T | Hypophosphatemic rickets, autosomal recessive, 1 [RCV001156932] | uncertain significance | 4 | 87664218 | 87664218 | Human | 1 | name |
| 150340155 | CV1168020 | single nucleotide variant | NM_004407.4(DMP1):c.54+56A>G | not provided [RCV001535049] | benign | 4 | 87656602 | 87656602 | Human | | name |
| 150330661 | CV1168647 | single nucleotide variant | NM_004407.4(DMP1):c.135+1G>T | Hypophosphatemic rickets, autosomal recessive, 1 [RCV001535957]|not provided [RCV001751790] | likely pathogenic|uncertain significance | 4 | 87659253 | 87659253 | Human | 1 | name |
| 152039066 | CV1647978 | deletion | NM_004407.4(DMP1):c.55-13del | not provided [RCV002087682] | benign | 4 | 87657019 | 87657019 | Human | | name |
| 156116220 | CV1972836 | single nucleotide variant | NM_004407.4(DMP1):c.54+18G>A | not provided [RCV002592958] | likely benign | 4 | 87656564 | 87656564 | Human | | name |
| 155915717 | CV2033465 | single nucleotide variant | NM_004407.4(DMP1):c.184-4C>A | not provided [RCV002750454] | likely benign | 4 | 87661958 | 87661958 | Human | | name |
| 156345279 | CV2051831 | single nucleotide variant | NM_004407.4(DMP1):c.136-3C>G | not provided [RCV002811428] | uncertain significance | 4 | 87659428 | 87659428 | Human | | name |
| 402478495 | CV2854571 | single nucleotide variant | NM_004407.4(DMP1):c.55-13C>T | not provided [RCV003543754] | likely benign | 4 | 87657019 | 87657019 | Human | | name |
| 405204947 | CV2858702 | single nucleotide variant | NM_004407.4(DMP1):c.184-7A>G | not provided [RCV003551821] | uncertain significance | 4 | 87661955 | 87661955 | Human | | name |
| 405228866 | CV2894684 | single nucleotide variant | NM_004407.4(DMP1):c.184-1G>A | not provided [RCV003555151] | likely pathogenic | 4 | 87661961 | 87661961 | Human | | name |
| 597696063 | CV3727875 | single nucleotide variant | NM_004407.4(DMP1):c.103-1G>A | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005032976]|not provided [RCV005063292] | likely pathogenic | 4 | 87659219 | 87659219 | Human | 1 | name |
| 598124957 | CV3885496 | single nucleotide variant | NM_004407.4(DMP1):c.54+10A>C | not specified [RCV005240074] | likely benign | 4 | 87656556 | 87656556 | Human | | name |
| 150331812 | CV1169063 | single nucleotide variant | NM_004407.4(DMP1):c.-21-51A>G | not provided [RCV001536635] | benign | 4 | 87656421 | 87656421 | Human | | name |
| 150450084 | CV1215198 | single nucleotide variant | NM_004407.4(DMP1):c.102+79A>G | not provided [RCV001611788] | benign | 4 | 87657158 | 87657158 | Human | | name |
| 152167803 | CV1577545 | single nucleotide variant | NM_004407.4(DMP1):c.135+15T>C | not provided [RCV002204806] | likely benign | 4 | 87659267 | 87659267 | Human | | name |
| 156419746 | CV1970464 | single nucleotide variant | NM_004407.4(DMP1):c.184-13C>T | not provided [RCV002612987] | likely benign | 4 | 87661949 | 87661949 | Human | | name |
| 155950290 | CV2076333 | single nucleotide variant | NM_004407.4(DMP1):c.103-11C>T | not provided [RCV002862312] | likely benign | 4 | 87659209 | 87659209 | Human | | name |
| 11662741 | CV299882 | microsatellite | NM_004407.4(DMP1):c.*915CT[1] | Hypophosphatemic Rickets, Recessive [RCV000388959] | uncertain significance | 4 | 87664234 | 87664235 | Human | | name |
| 405103472 | CV3116264 | single nucleotide variant | NM_004407.4(DMP1):c.102+13A>G | not provided [RCV003811980] | likely benign | 4 | 87657092 | 87657092 | Human | | name |
| 405092231 | CV3134482 | single nucleotide variant | NM_004407.4(DMP1):c.136-19A>C | not provided [RCV003834828] | likely benign | 4 | 87659412 | 87659412 | Human | | name |
| 597857396 | CV3748157 | single nucleotide variant | NM_004407.4(DMP1):c.184-12C>T | not provided [RCV005066979] | likely benign | 4 | 87661950 | 87661950 | Human | | name |
| 150425273 | CV1183517 | single nucleotide variant | NM_004407.4(DMP1):c.103-318A>G | not provided [RCV001557789] | likely benign | 4 | 87658902 | 87658902 | Human | | name |
| 150499589 | CV1224616 | single nucleotide variant | NM_004407.4(DMP1):c.-21-205T>C | not provided [RCV001620447] | benign | 4 | 87656267 | 87656267 | Human | | name |
| 150458888 | CV1236002 | single nucleotide variant | NM_004407.4(DMP1):c.183+180T>C | not provided [RCV001648973] | benign | 4 | 87659658 | 87659658 | Human | | name |
| 150466286 | CV1255714 | single nucleotide variant | NM_004407.4(DMP1):c.102+256T>C | not provided [RCV001670348] | benign | 4 | 87657335 | 87657335 | Human | | name |
| 150449070 | CV1275624 | duplication | NM_004407.4(DMP1):c.184-299dup | not provided [RCV001708079] | benign | 4 | 87661647 | 87661648 | Human | | name |
| 11588122 | CV299788 | deletion | NM_004407.4(DMP1):c.*757_*758del | Hypophosphatemic Rickets, Recessive [RCV000300425] | benign | 4 | 87664066 | 87664067 | Human | 1 | name |
| 151714201 | CV1330543 | single nucleotide variant | NM_004407.4(DMP1):c.2T>A (p.Met1Lys) | Hypophosphatemic rickets [RCV001843319] | pathogenic | 4 | 87656494 | 87656494 | Human | 2 | name |
| 151807168 | CV1454951 | single nucleotide variant | NM_004407.4(DMP1):c.4A>T (p.Lys2Ter) | not provided [RCV001953465] | pathogenic | 4 | 87656496 | 87656496 | Human | | name |
| 8598000 | CV23614 | single nucleotide variant | NM_004407.4(DMP1):c.1A>G (p.Met1Val) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000009106]|not provided [RCV000255281]|not specified [RCV003483428] | pathogenic|benign | 4 | 87656493 | 87656493 | Human | 1 | name |
| 405139071 | CV3029644 | microsatellite | NM_004407.4(DMP1):c.103-17_103-14del | not provided [RCV003702353] | likely benign | 4 | 87659197 | 87659200 | Human | | name |
| 597696035 | CV3727872 | single nucleotide variant | NM_004407.4(DMP1):c.7A>T (p.Ile3Phe) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005032973] | uncertain significance | 4 | 87656499 | 87656499 | Human | 1 | name |
| 152110682 | CV1581663 | single nucleotide variant | NM_004407.4(DMP1):c.138G>A (p.Glu46=) | not provided [RCV002096807] | likely benign | 4 | 87659433 | 87659433 | Human | | name |
| 153305118 | CV1687526 | single nucleotide variant | NM_004407.4(DMP1):c.246A>G (p.Gln82=) | not provided [RCV002263347] | likely benign | 4 | 87662024 | 87662024 | Human | | name |
| 11642061 | CV267197 | single nucleotide variant | NM_004407.4(DMP1):c.11G>C (p.Ser4Thr) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV001156716]|not provided [RCV000366134] | uncertain significance | 4 | 87656503 | 87656503 | Human | 1 | name |
| 597905244 | CV3856360 | single nucleotide variant | NM_004407.4(DMP1):c.195C>T (p.Asp65=) | not provided [RCV005202588] | likely benign | 4 | 87661973 | 87661973 | Human | | name |
| 28886816 | CV892447 | single nucleotide variant | NM_004407.4(DMP1):c.159C>T (p.Gly53=) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV001151268]|not provided [RCV001518677] | benign|uncertain significance | 4 | 87659454 | 87659454 | Human | 1 | name |
| 150501008 | CV1256209 | duplication | NM_004407.4(DMP1):c.184-300_184-299dup | not provided [RCV001676833] | benign | 4 | 87661647 | 87661648 | Human | | name |
| 150506926 | CV1258089 | duplication | NM_004407.4(DMP1):c.184-301_184-299dup | not provided [RCV001678306] | benign | 4 | 87661647 | 87661648 | Human | | name |
| 152152705 | CV1529701 | single nucleotide variant | NM_004407.4(DMP1):c.810G>A (p.Lys270=) | not provided [RCV002202223] | likely benign | 4 | 87662588 | 87662588 | Human | | name |
| 152122493 | CV1541578 | single nucleotide variant | NM_004407.4(DMP1):c.660A>C (p.Pro220=) | not provided [RCV002175763] | likely benign | 4 | 87662438 | 87662438 | Human | | name |
| 10048993 | CV195332 | single nucleotide variant | NM_004407.4(DMP1):c.879T>C (p.Ser293=) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV001155164]|not provided [RCV000954908]|not specified [RCV000179439] | benign|likely benign|uncertain significance | 4 | 87662657 | 87662657 | Human | 1 | name |
| 156396887 | CV2012455 | single nucleotide variant | NM_004407.4(DMP1):c.603G>A (p.Glu201=) | not provided [RCV002725634] | likely benign | 4 | 87662381 | 87662381 | Human | | name |
| 156218457 | CV2084587 | single nucleotide variant | NM_004407.4(DMP1):c.351T>C (p.Asp117=) | not provided [RCV002853115] | likely benign | 4 | 87662129 | 87662129 | Human | | name |
| 156107350 | CV2089268 | single nucleotide variant | NM_004407.4(DMP1):c.318A>G (p.Glu106=) | not provided [RCV002848309] | likely benign | 4 | 87662096 | 87662096 | Human | | name |
| 155978484 | CV2093792 | single nucleotide variant | NM_004407.4(DMP1):c.825G>A (p.Glu275=) | not provided [RCV002881815] | likely benign | 4 | 87662603 | 87662603 | Human | | name |
| 156083417 | CV2138349 | single nucleotide variant | NM_004407.4(DMP1):c.40T>G (p.Ser14Ala) | not provided [RCV002979339] | uncertain significance | 4 | 87656532 | 87656532 | Human | | name |
| 156049190 | CV2144505 | single nucleotide variant | NM_004407.4(DMP1):c.822A>G (p.Ser274=) | not provided [RCV002999812] | likely benign | 4 | 87662600 | 87662600 | Human | | name |
| 156094468 | CV2213369 | single nucleotide variant | NM_004407.4(DMP1):c.76G>C (p.Glu26Gln) | Inborn genetic diseases [RCV002661558] | uncertain significance | 4 | 87657053 | 87657053 | Human | 1 | name |
| 405072611 | CV2941166 | single nucleotide variant | NM_004407.4(DMP1):c.996C>T (p.Asn332=) | not provided [RCV003664072] | likely benign | 4 | 87662774 | 87662774 | Human | | name |
| 11587026 | CV299853 | single nucleotide variant | NM_004407.4(DMP1):c.91G>A (p.Glu31Lys) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000292026]|not provided [RCV001510969] | benign|uncertain significance | 4 | 87657068 | 87657068 | Human | 1 | name |
| 402484059 | CV3036638 | single nucleotide variant | NM_004407.4(DMP1):c.918C>T (p.Leu306=) | not provided [RCV003713051] | likely benign | 4 | 87662696 | 87662696 | Human | | name |
| 405225725 | CV3042248 | single nucleotide variant | NM_004407.4(DMP1):c.708C>A (p.Gly236=) | not provided [RCV003710664] | likely benign | 4 | 87662486 | 87662486 | Human | | name |
| 405090496 | CV3044774 | single nucleotide variant | NM_004407.4(DMP1):c.618C>T (p.Asp206=) | not provided [RCV003717783] | likely benign | 4 | 87662396 | 87662396 | Human | | name |
| 405131001 | CV3115063 | single nucleotide variant | NM_004407.4(DMP1):c.360C>T (p.Gly120=) | not provided [RCV003815908] | likely benign | 4 | 87662138 | 87662138 | Human | | name |
| 405177222 | CV3123451 | single nucleotide variant | NM_004407.4(DMP1):c.624C>T (p.Ser208=) | not provided [RCV003819660] | likely benign | 4 | 87662402 | 87662402 | Human | | name |
| 405233684 | CV3145106 | single nucleotide variant | NM_004407.4(DMP1):c.609C>T (p.Ser203=) | not provided [RCV003853363] | likely benign | 4 | 87662387 | 87662387 | Human | | name |
| 405043983 | CV3150278 | single nucleotide variant | NM_004407.4(DMP1):c.480T>C (p.Asp160=) | not provided [RCV003849072] | likely benign | 4 | 87662258 | 87662258 | Human | | name |
| 405270059 | CV3198038 | single nucleotide variant | NM_004407.4(DMP1):c.705A>G (p.Ala235=) | DMP1-related disorder [RCV003899848] | likely benign | 4 | 87662483 | 87662483 | Human | | name , trait , alternate_id |
| 597658624 | CV3659071 | single nucleotide variant | NM_004407.4(DMP1):c.80C>T (p.Ser27Phe) | Inborn genetic diseases [RCV004976961] | uncertain significance | 4 | 87657057 | 87657057 | Human | 1 | name |
| 597696045 | CV3727873 | single nucleotide variant | NM_004407.4(DMP1):c.45T>G (p.Cys15Trp) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005032974] | uncertain significance | 4 | 87656537 | 87656537 | Human | 1 | name |
| 597663094 | CV3727887 | single nucleotide variant | NM_004407.4(DMP1):c.522G>A (p.Val174=) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005043021]|not provided [RCV005063293] | likely benign|uncertain significance | 4 | 87662300 | 87662300 | Human | 1 | name |
| 597837124 | CV3828723 | single nucleotide variant | NM_004407.4(DMP1):c.750C>T (p.Asn250=) | not provided [RCV005171416] | likely benign | 4 | 87662528 | 87662528 | Human | | name |
| 13523569 | CV493681 | single nucleotide variant | NM_004407.4(DMP1):c.402G>A (p.Leu134=) | not provided [RCV000593174] | conflicting interpretations of pathogenicity|uncertain significance | 4 | 87662180 | 87662180 | Human | | name |
| 13540268 | CV501074 | single nucleotide variant | NM_004407.4(DMP1):c.348C>T (p.Asp116=) | not provided [RCV002531629]|not specified [RCV000614462] | likely benign | 4 | 87662126 | 87662126 | Human | | name |
| 13835756 | CV587019 | single nucleotide variant | NM_004407.4(DMP1):c.98G>A (p.Trp33Ter) | not provided [RCV000731648] | pathogenic | 4 | 87657075 | 87657075 | Human | | name |
| 15187991 | CV734757 | single nucleotide variant | NM_004407.4(DMP1):c.639G>A (p.Glu213=) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV001154332]|not provided [RCV000909242]|not specified [RCV005418406] | benign|likely benign | 4 | 87662417 | 87662417 | Human | 1 | name |
| 15136590 | CV749101 | single nucleotide variant | NM_004407.4(DMP1):c.753T>C (p.Thr251=) | not provided [RCV000921035] | likely benign | 4 | 87662531 | 87662531 | Human | | name |
| 15181211 | CV764636 | single nucleotide variant | NM_004407.4(DMP1):c.79T>C (p.Ser27Pro) | DMP1-related disorder [RCV003933164]|not provided [RCV000930070] | likely benign | 4 | 87657056 | 87657056 | Human | 1 | name , trait , alternate_id |
| 28886822 | CV892448 | single nucleotide variant | NM_004407.4(DMP1):c.312C>T (p.Asp104=) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV001151269]|not provided [RCV001399287]|not specified [RCV005408712] | likely benign|uncertain significance | 4 | 87662090 | 87662090 | Human | 1 | name |
| 28895583 | CV892451 | single nucleotide variant | NM_004407.4(DMP1):c.600G>A (p.Gly200=) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV001154331]|not provided [RCV002070886] | benign|likely benign | 4 | 87662378 | 87662378 | Human | 1 | name |
| 126760400 | CV1026025 | single nucleotide variant | NM_004407.4(DMP1):c.230G>C (p.Gly77Ala) | not provided [RCV001340398] | uncertain significance | 4 | 87662008 | 87662008 | Human | | name |
| 127334648 | CV1136020 | single nucleotide variant | NM_004407.4(DMP1):c.1062G>A (p.Glu354=) | not provided [RCV001490988] | likely benign | 4 | 87662840 | 87662840 | Human | | name |
| 151736363 | CV1507180 | single nucleotide variant | NM_004407.4(DMP1):c.1332C>T (p.Ser444=) | not provided [RCV001984763] | likely benign|uncertain significance | 4 | 87663110 | 87663110 | Human | | name |
| 156024680 | CV1896046 | single nucleotide variant | NM_004407.4(DMP1):c.196C>T (p.Pro66Ser) | Inborn genetic diseases [RCV004978597]|not provided [RCV003100370] | uncertain significance | 4 | 87661974 | 87661974 | Human | 1 | name |
| 156285427 | CV1900482 | single nucleotide variant | NM_004407.4(DMP1):c.1167G>A (p.Ser389=) | not provided [RCV002598540] | likely benign | 4 | 87662945 | 87662945 | Human | | name |
| 156402761 | CV1908166 | single nucleotide variant | NM_004407.4(DMP1):c.1407G>A (p.Thr469=) | not provided [RCV002585068] | likely benign | 4 | 87663185 | 87663185 | Human | | name |
| 156448943 | CV1948253 | single nucleotide variant | NM_004407.4(DMP1):c.1533C>T (p.Asp511=) | not provided [RCV003121050] | likely benign | 4 | 87663311 | 87663311 | Human | | name |
| 156354705 | CV1974969 | single nucleotide variant | NM_004407.4(DMP1):c.244C>G (p.Gln82Glu) | not provided [RCV002602078] | uncertain significance | 4 | 87662022 | 87662022 | Human | | name |
| 156007124 | CV2042388 | single nucleotide variant | NM_004407.4(DMP1):c.158G>A (p.Gly53Asp) | not provided [RCV002794902] | uncertain significance | 4 | 87659453 | 87659453 | Human | | name |
| 156089764 | CV2092852 | single nucleotide variant | NM_004407.4(DMP1):c.1434T>C (p.Asp478=) | not provided [RCV002926634] | likely benign | 4 | 87663212 | 87663212 | Human | | name |
| 156101536 | CV2103560 | single nucleotide variant | NM_004407.4(DMP1):c.124A>C (p.Thr42Pro) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005045050]|not provided [RCV002927067] | likely benign|uncertain significance | 4 | 87659241 | 87659241 | Human | 1 | name |
| 156098110 | CV2152849 | single nucleotide variant | NM_004407.4(DMP1):c.1347T>C (p.Ser449=) | not provided [RCV003020945] | likely benign | 4 | 87663125 | 87663125 | Human | | name |
| 8560547 | CV23612 | deletion | NM_004407.4(DMP1):c.362del (p.Pro121fs) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000009104] | pathogenic | 4 | 87662138 | 87662138 | Human | 1 | name |
| 11581271 | CV275013 | single nucleotide variant | NM_004407.4(DMP1):c.1107C>T (p.Asp369=) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000363425]|not provided [RCV000394336]|not specified [RCV005238860] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 4 | 87662885 | 87662885 | Human | 1 | name |
| 401961570 | CV2843891 | single nucleotide variant | NM_004407.4(DMP1):c.209C>G (p.Thr70Ser) | not provided [RCV003481730] | uncertain significance | 4 | 87661987 | 87661987 | Human | | name |
| 11590653 | CV294545 | single nucleotide variant | NM_004407.4(DMP1):c.1230G>A (p.Glu410=) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000321108]|not provided [RCV001522087]|not specified [RCV001528705] | benign | 4 | 87663008 | 87663008 | Human | 1 | name |
| 11664366 | CV296087 | single nucleotide variant | NM_004407.4(DMP1):c.289A>G (p.Lys97Glu) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000404858] | uncertain significance | 4 | 87662067 | 87662067 | Human | 1 | name |
| 405172573 | CV2961401 | single nucleotide variant | NM_004407.4(DMP1):c.1299C>G (p.Leu433=) | not provided [RCV003675482] | likely benign | 4 | 87663077 | 87663077 | Human | | name |
| 11593460 | CV299760 | single nucleotide variant | NM_004407.4(DMP1):c.205A>T (p.Ser69Cys) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000987455]|not provided [RCV001522086]|not specified [RCV001528681] | benign | 4 | 87661983 | 87661983 | Human | 1 | name |
| 11588881 | CV299766 | single nucleotide variant | NM_004407.4(DMP1):c.1023C>T (p.Ser341=) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000306370]|not provided [RCV000912858] | benign|uncertain significance | 4 | 87662801 | 87662801 | Human | 1 | name |
| 11583369 | CV299770 | single nucleotide variant | NM_004407.4(DMP1):c.1218C>T (p.Ser406=) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000266071]|not provided [RCV001510427] | benign | 4 | 87662996 | 87662996 | Human | 1 | name |
| 402516271 | CV3135791 | single nucleotide variant | NM_004407.4(DMP1):c.259C>A (p.Leu87Ile) | not provided [RCV003824417] | uncertain significance | 4 | 87662037 | 87662037 | Human | | name |
| 405208524 | CV3162468 | single nucleotide variant | NM_004407.4(DMP1):c.1287C>T (p.Ser429=) | not provided [RCV003861767] | likely benign | 4 | 87663065 | 87663065 | Human | | name |
| 405242495 | CV3173342 | single nucleotide variant | NM_004407.4(DMP1):c.1527C>T (p.Cys509=) | not provided [RCV003867627] | likely benign | 4 | 87663305 | 87663305 | Human | | name |
| 405251355 | CV3181297 | single nucleotide variant | NM_004407.4(DMP1):c.1479T>C (p.Val493=) | not provided [RCV003870299] | likely benign | 4 | 87663257 | 87663257 | Human | | name |
| 405670206 | CV3240651 | single nucleotide variant | NM_004407.4(DMP1):c.171C>G (p.Ser57Arg) | Inborn genetic diseases [RCV004368512] | uncertain significance | 4 | 87659466 | 87659466 | Human | 1 | name |
| 407475591 | CV3430765 | single nucleotide variant | NM_004407.4(DMP1):c.140G>C (p.Ser47Thr) | Inborn genetic diseases [RCV004616696] | uncertain significance | 4 | 87659435 | 87659435 | Human | 1 | name |
| 408393311 | CV3519771 | single nucleotide variant | NM_004407.4(DMP1):c.200G>A (p.Ser67Asn) | not provided [RCV004764067] | uncertain significance | 4 | 87661978 | 87661978 | Human | | name |
| 597658637 | CV3659074 | single nucleotide variant | NM_004407.4(DMP1):c.151T>C (p.Ser51Pro) | Inborn genetic diseases [RCV004976964] | uncertain significance | 4 | 87659446 | 87659446 | Human | 1 | name |
| 597696054 | CV3727874 | single nucleotide variant | NM_004407.4(DMP1):c.102G>T (p.Lys34Asn) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005032975] | uncertain significance | 4 | 87657079 | 87657079 | Human | 1 | name |
| 597696074 | CV3727876 | single nucleotide variant | NM_004407.4(DMP1):c.266G>A (p.Gly89Asp) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005032977] | uncertain significance | 4 | 87662044 | 87662044 | Human | 1 | name |
| 597696084 | CV3727877 | single nucleotide variant | NM_004407.4(DMP1):c.286G>A (p.Gly96Arg) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005032978] | uncertain significance | 4 | 87662064 | 87662064 | Human | 1 | name |
| 597921525 | CV3738394 | single nucleotide variant | NM_004407.4(DMP1):c.1206G>A (p.Glu402=) | not provided [RCV005074801] | likely benign | 4 | 87662984 | 87662984 | Human | | name |
| 597914160 | CV3740601 | single nucleotide variant | NM_004407.4(DMP1):c.1257G>A (p.Pro419=) | not provided [RCV005073938] | likely benign | 4 | 87663035 | 87663035 | Human | | name |
| 597962468 | CV3753712 | single nucleotide variant | NM_004407.4(DMP1):c.205A>G (p.Ser69Gly) | not provided [RCV005082016] | uncertain significance | 4 | 87661983 | 87661983 | Human | | name |
| 597938778 | CV3759627 | single nucleotide variant | NM_004407.4(DMP1):c.1080G>A (p.Val360=) | not provided [RCV005076747] | likely benign | 4 | 87662858 | 87662858 | Human | | name |
| 597834388 | CV3760746 | duplication | NM_004407.4(DMP1):c.683dup (p.Asn229fs) | not provided [RCV005085297] | pathogenic | 4 | 87662457 | 87662458 | Human | | name |
| 597911645 | CV3782207 | single nucleotide variant | NM_004407.4(DMP1):c.1488T>C (p.Tyr496=) | not provided [RCV005128700] | likely benign | 4 | 87663266 | 87663266 | Human | | name |
| 597834798 | CV3831940 | single nucleotide variant | NM_004407.4(DMP1):c.1353A>G (p.Glu451=) | not provided [RCV005170943] | likely benign | 4 | 87663131 | 87663131 | Human | | name |
| 597873281 | CV3836275 | single nucleotide variant | NM_004407.4(DMP1):c.1395T>C (p.Asp465=) | not provided [RCV005177072] | likely benign | 4 | 87663173 | 87663173 | Human | | name |
| 598185039 | CV3960380 | single nucleotide variant | NM_004407.4(DMP1):c.240T>A (p.Asp80Glu) | Inborn genetic diseases [RCV005333790] | uncertain significance | 4 | 87662018 | 87662018 | Human | 1 | name |
| 617150933 | CV4021972 | deletion | NM_004407.4(DMP1):c.534del (p.Glu179fs) | not provided [RCV005426933] | likely pathogenic | 4 | 87662312 | 87662312 | Human | | name |
| 13517978 | CV490160 | single nucleotide variant | NM_004407.4(DMP1):c.1131C>T (p.Asp377=) | not provided [RCV000596991] | uncertain significance | 4 | 87662909 | 87662909 | Human | | name |
| 15154935 | CV734756 | single nucleotide variant | NM_004407.4(DMP1):c.263C>T (p.Ala88Val) | not provided [RCV000902047] | likely benign | 4 | 87662041 | 87662041 | Human | | name |
| 15155210 | CV734760 | single nucleotide variant | NM_004407.4(DMP1):c.1185A>C (p.Ser395=) | not provided [RCV000902099] | likely benign | 4 | 87662963 | 87662963 | Human | | name |
| 28901693 | CV892456 | single nucleotide variant | NM_004407.4(DMP1):c.1356C>T (p.Asp452=) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV001156816]|not provided [RCV001479268] | likely benign|uncertain significance | 4 | 87663134 | 87663134 | Human | 1 | name |
| 126919827 | CV1042963 | single nucleotide variant | NM_004407.4(DMP1):c.431T>C (p.Ile144Thr) | not provided [RCV001362517] | uncertain significance | 4 | 87662209 | 87662209 | Human | | name |
| 151726069 | CV1339609 | single nucleotide variant | NM_004407.4(DMP1):c.583G>A (p.Gly195Arg) | not provided [RCV002004272] | uncertain significance | 4 | 87662361 | 87662361 | Human | | name |
| 151794754 | CV1434333 | single nucleotide variant | NM_004407.4(DMP1):c.352G>A (p.Asp118Asn) | not provided [RCV001866576] | uncertain significance | 4 | 87662130 | 87662130 | Human | | name |
| 151794849 | CV1435511 | single nucleotide variant | NM_004407.4(DMP1):c.579G>T (p.Trp193Cys) | not provided [RCV001931766] | uncertain significance | 4 | 87662357 | 87662357 | Human | | name |
| 151773680 | CV1444155 | single nucleotide variant | NM_004407.4(DMP1):c.445G>T (p.Glu149Ter) | not provided [RCV001896587] | pathogenic | 4 | 87662223 | 87662223 | Human | | name |
| 151776976 | CV1449499 | single nucleotide variant | NM_004407.4(DMP1):c.792T>A (p.Ser264Arg) | not provided [RCV002009381] | uncertain significance | 4 | 87662570 | 87662570 | Human | | name |
| 151718764 | CV1506840 | single nucleotide variant | NM_004407.4(DMP1):c.412G>A (p.Glu138Lys) | not provided [RCV001909394] | uncertain significance | 4 | 87662190 | 87662190 | Human | | name |
| 155268649 | CV1705476 | single nucleotide variant | NM_004407.4(DMP1):c.809A>C (p.Lys270Thr) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005032226]|not provided [RCV002286081] | uncertain significance | 4 | 87662587 | 87662587 | Human | 1 | name |
| 156050080 | CV1868971 | single nucleotide variant | NM_004407.4(DMP1):c.814C>T (p.Arg272Cys) | not provided [RCV003052966] | uncertain significance | 4 | 87662592 | 87662592 | Human | | name |
| 156341308 | CV1898831 | single nucleotide variant | NM_004407.4(DMP1):c.518G>A (p.Arg173Gln) | not provided [RCV003090380] | uncertain significance | 4 | 87662296 | 87662296 | Human | | name |
| 156195207 | CV1900639 | single nucleotide variant | NM_004407.4(DMP1):c.790A>C (p.Ser264Arg) | not provided [RCV002574545] | uncertain significance | 4 | 87662568 | 87662568 | Human | | name |
| 156198526 | CV1916600 | single nucleotide variant | NM_004407.4(DMP1):c.349G>A (p.Asp117Asn) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005034741]|not provided [RCV002595618] | uncertain significance | 4 | 87662127 | 87662127 | Human | 1 | name |
| 156435569 | CV1940820 | single nucleotide variant | NM_004407.4(DMP1):c.844C>T (p.Leu282Phe) | not provided [RCV003104923] | uncertain significance | 4 | 87662622 | 87662622 | Human | | name |
| 156009185 | CV1989598 | single nucleotide variant | NM_004407.4(DMP1):c.787C>G (p.Pro263Ala) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005034345]|not provided [RCV002636132] | uncertain significance | 4 | 87662565 | 87662565 | Human | 1 | name |
| 156147377 | CV2003038 | single nucleotide variant | NM_004407.4(DMP1):c.746C>A (p.Ala249Glu) | not provided [RCV002663782] | uncertain significance | 4 | 87662524 | 87662524 | Human | | name |
| 156116061 | CV2104637 | single nucleotide variant | NM_004407.4(DMP1):c.421G>A (p.Asp141Asn) | DMP1-related disorder [RCV003961212]|not provided [RCV002927626] | likely benign | 4 | 87662199 | 87662199 | Human | 1 | name , trait , alternate_id |
| 156094214 | CV2139415 | single nucleotide variant | NM_004407.4(DMP1):c.424G>T (p.Asp142Tyr) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV004720374]|not provided [RCV002979728] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 4 | 87662202 | 87662202 | Human | 1 | name |
| 156189201 | CV2178865 | single nucleotide variant | NM_004407.4(DMP1):c.373G>A (p.Asp125Asn) | not provided [RCV003057778] | uncertain significance | 4 | 87662151 | 87662151 | Human | | name |
| 156266855 | CV2243812 | single nucleotide variant | NM_004407.4(DMP1):c.468C>G (p.Asp156Glu) | Inborn genetic diseases [RCV002792231] | uncertain significance | 4 | 87662246 | 87662246 | Human | 1 | name |
| 156038380 | CV2259989 | single nucleotide variant | NM_004407.4(DMP1):c.619G>A (p.Gly207Ser) | Inborn genetic diseases [RCV002821564] | uncertain significance | 4 | 87662397 | 87662397 | Human | 1 | name |
| 243057620 | CV2412165 | single nucleotide variant | NM_004407.4(DMP1):c.332A>G (p.Asp111Gly) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV003146179] | uncertain significance | 4 | 87662110 | 87662110 | Human | 1 | name |
| 401780464 | CV2716783 | single nucleotide variant | NM_004407.4(DMP1):c.485C>T (p.Thr162Ile) | Inborn genetic diseases [RCV003288043] | uncertain significance | 4 | 87662263 | 87662263 | Human | 1 | name |
| 11643813 | CV274093 | single nucleotide variant | NM_004407.4(DMP1):c.929G>A (p.Arg310Lys) | not provided [RCV000399904] | uncertain significance | 4 | 87662707 | 87662707 | Human | | name |
| 401894808 | CV2785304 | single nucleotide variant | NM_004407.4(DMP1):c.779T>C (p.Leu260Pro) | Inborn genetic diseases [RCV003371870] | uncertain significance | 4 | 87662557 | 87662557 | Human | 1 | name |
| 405207704 | CV2909104 | single nucleotide variant | NM_004407.4(DMP1):c.482C>T (p.Thr161Ile) | not provided [RCV003566719] | uncertain significance | 4 | 87662260 | 87662260 | Human | | name |
| 11592343 | CV294535 | single nucleotide variant | NM_004407.4(DMP1):c.674G>A (p.Ser225Asn) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000337695]|not provided [RCV002520284] | uncertain significance | 4 | 87662452 | 87662452 | Human | 1 | name |
| 11597696 | CV294536 | single nucleotide variant | NM_004407.4(DMP1):c.709A>G (p.Met237Val) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000396842]|not specified [RCV003479105] | uncertain significance | 4 | 87662487 | 87662487 | Human | 1 | name |
| 11583606 | CV294541 | single nucleotide variant | NM_004407.4(DMP1):c.943G>C (p.Gly315Arg) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000267594]|not provided [RCV001566806]|not specified [RCV000502875] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 4 | 87662721 | 87662721 | Human | 1 | name |
| 11650847 | CV296090 | single nucleotide variant | NM_004407.4(DMP1):c.370A>C (p.Lys124Gln) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000295362] | uncertain significance | 4 | 87662148 | 87662148 | Human | 1 | name |
| 11593848 | CV296091 | single nucleotide variant | NM_004407.4(DMP1):c.428C>T (p.Thr143Ile) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000352840]|Inborn genetic diseases [RCV002520283]|not provided [RCV002520282]|not specified [RCV004701441] | uncertain significance | 4 | 87662206 | 87662206 | Human | 2 | name |
| 11587974 | CV299761 | single nucleotide variant | NM_004407.4(DMP1):c.658C>A (p.Pro220Thr) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000299066] | uncertain significance | 4 | 87662436 | 87662436 | Human | 1 | name |
| 11588426 | CV299765 | single nucleotide variant | NM_004407.4(DMP1):c.815G>A (p.Arg272His) | DMP1-related disorder [RCV003902356]|Hypophosphatemic rickets, autosomal recessive, 1 [RCV000764554]|not provided [RCV000591260] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 4 | 87662593 | 87662593 | Human | 2 | name , trait , alternate_id |
| 405205327 | CV2997677 | single nucleotide variant | NM_004407.4(DMP1):c.985G>A (p.Glu329Lys) | not provided [RCV003678660] | uncertain significance | 4 | 87662763 | 87662763 | Human | | name |
| 11597700 | CV299857 | single nucleotide variant | NM_004407.4(DMP1):c.475C>A (p.Gln159Lys) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000396857]|not provided [RCV001519023] | benign|likely benign | 4 | 87662253 | 87662253 | Human | 1 | name |
| 11594505 | CV299863 | single nucleotide variant | NM_004407.4(DMP1):c.844C>A (p.Leu282Ile) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000359946]|not provided [RCV000762099] | benign|likely benign|uncertain significance | 4 | 87662622 | 87662622 | Human | 1 | name |
| 405670211 | CV3240652 | single nucleotide variant | NM_004407.4(DMP1):c.645G>T (p.Met215Ile) | Inborn genetic diseases [RCV004368513] | uncertain significance | 4 | 87662423 | 87662423 | Human | 1 | name |
| 407475587 | CV3430764 | single nucleotide variant | NM_004407.4(DMP1):c.383A>G (p.Glu128Gly) | Inborn genetic diseases [RCV004616695] | uncertain significance | 4 | 87662161 | 87662161 | Human | 1 | name |
| 407475595 | CV3430766 | single nucleotide variant | NM_004407.4(DMP1):c.699C>G (p.Asn233Lys) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005038743]|Inborn genetic diseases [RCV004616697] | uncertain significance | 4 | 87662477 | 87662477 | Human | 2 | name |
| 597658627 | CV3659072 | single nucleotide variant | NM_004407.4(DMP1):c.812C>T (p.Ser271Phe) | Inborn genetic diseases [RCV004976962] | uncertain significance | 4 | 87662590 | 87662590 | Human | 1 | name |
| 597658633 | CV3659073 | single nucleotide variant | NM_004407.4(DMP1):c.565A>T (p.Ser189Cys) | Inborn genetic diseases [RCV004976963] | uncertain significance | 4 | 87662343 | 87662343 | Human | 1 | name |
| 597658646 | CV3659077 | single nucleotide variant | NM_004407.4(DMP1):c.503T>G (p.Leu168Arg) | Inborn genetic diseases [RCV004976966] | uncertain significance | 4 | 87662281 | 87662281 | Human | 1 | name |
| 597696091 | CV3727878 | single nucleotide variant | NM_004407.4(DMP1):c.325A>G (p.Ser109Gly) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005032979] | uncertain significance | 4 | 87662103 | 87662103 | Human | 1 | name |
| 597696102 | CV3727879 | single nucleotide variant | NM_004407.4(DMP1):c.328G>A (p.Gly110Arg) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005032980] | uncertain significance | 4 | 87662106 | 87662106 | Human | 1 | name |
| 597696114 | CV3727880 | single nucleotide variant | NM_004407.4(DMP1):c.338C>T (p.Thr113Ile) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005032981] | uncertain significance | 4 | 87662116 | 87662116 | Human | 1 | name |
| 597696122 | CV3727881 | single nucleotide variant | NM_004407.4(DMP1):c.349G>C (p.Asp117His) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005032982] | uncertain significance | 4 | 87662127 | 87662127 | Human | 1 | name |
| 597696132 | CV3727882 | single nucleotide variant | NM_004407.4(DMP1):c.403G>T (p.Gly135Ter) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005032983] | likely pathogenic | 4 | 87662181 | 87662181 | Human | 1 | name |
| 597696140 | CV3727883 | single nucleotide variant | NM_004407.4(DMP1):c.406A>G (p.Ser136Gly) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005032984] | uncertain significance | 4 | 87662184 | 87662184 | Human | 1 | name |
| 597696151 | CV3727884 | single nucleotide variant | NM_004407.4(DMP1):c.411T>A (p.Asp137Glu) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005032985] | uncertain significance | 4 | 87662189 | 87662189 | Human | 1 | name |
| 597663087 | CV3727886 | single nucleotide variant | NM_004407.4(DMP1):c.469A>G (p.Ser157Gly) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005043020] | uncertain significance | 4 | 87662247 | 87662247 | Human | 1 | name |
| 597663100 | CV3727888 | single nucleotide variant | NM_004407.4(DMP1):c.548C>T (p.Ser183Phe) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005043022]|Inborn genetic diseases [RCV005325954] | uncertain significance | 4 | 87662326 | 87662326 | Human | 2 | name |
| 597696172 | CV3727889 | single nucleotide variant | NM_004407.4(DMP1):c.634G>A (p.Asp212Asn) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005032987] | uncertain significance | 4 | 87662412 | 87662412 | Human | 1 | name |
| 597696181 | CV3727890 | single nucleotide variant | NM_004407.4(DMP1):c.745G>A (p.Ala249Thr) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005032988] | uncertain significance | 4 | 87662523 | 87662523 | Human | 1 | name |
| 597663109 | CV3727891 | single nucleotide variant | NM_004407.4(DMP1):c.746C>G (p.Ala249Gly) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005043023] | uncertain significance | 4 | 87662524 | 87662524 | Human | 1 | name |
| 597696705 | CV3727892 | single nucleotide variant | NM_004407.4(DMP1):c.752C>T (p.Thr251Ile) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005032989] | uncertain significance | 4 | 87662530 | 87662530 | Human | 1 | name |
| 597663117 | CV3727893 | single nucleotide variant | NM_004407.4(DMP1):c.781G>A (p.Glu261Lys) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005043024] | uncertain significance | 4 | 87662559 | 87662559 | Human | 1 | name |
| 597664335 | CV3727894 | single nucleotide variant | NM_004407.4(DMP1):c.795G>T (p.Arg265Ser) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005043025] | uncertain significance | 4 | 87662573 | 87662573 | Human | 1 | name |
| 597696202 | CV3727895 | single nucleotide variant | NM_004407.4(DMP1):c.809A>T (p.Lys270Met) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005032990] | uncertain significance | 4 | 87662587 | 87662587 | Human | 1 | name |
| 597696212 | CV3727896 | single nucleotide variant | NM_004407.4(DMP1):c.857A>C (p.Asn286Thr) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005032991] | uncertain significance | 4 | 87662635 | 87662635 | Human | 1 | name |
| 597696223 | CV3727897 | single nucleotide variant | NM_004407.4(DMP1):c.899A>G (p.Asn300Ser) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005032992] | uncertain significance | 4 | 87662677 | 87662677 | Human | 1 | name |
| 597663144 | CV3727898 | single nucleotide variant | NM_004407.4(DMP1):c.911C>A (p.Thr304Asn) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005043027] | uncertain significance | 4 | 87662689 | 87662689 | Human | 1 | name |
| 597696231 | CV3727899 | single nucleotide variant | NM_004407.4(DMP1):c.944G>A (p.Gly315Asp) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005032993] | uncertain significance | 4 | 87662722 | 87662722 | Human | 1 | name |
| 597696240 | CV3727900 | single nucleotide variant | NM_004407.4(DMP1):c.977C>A (p.Ser326Tyr) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005032994] | uncertain significance | 4 | 87662755 | 87662755 | Human | 1 | name |
| 597663152 | CV3727901 | single nucleotide variant | NM_004407.4(DMP1):c.982G>A (p.Glu328Lys) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005043028] | uncertain significance | 4 | 87662760 | 87662760 | Human | 1 | name |
| 597696251 | CV3727902 | single nucleotide variant | NM_004407.4(DMP1):c.991C>G (p.Gln331Glu) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005032995] | uncertain significance | 4 | 87662769 | 87662769 | Human | 1 | name |
| 597974166 | CV3821126 | deletion | NM_004407.4(DMP1):c.1500del (p.Ile501fs) | not provided [RCV005168447] | uncertain significance | 4 | 87663276 | 87663276 | Human | | name |
| 597859638 | CV3832893 | single nucleotide variant | NM_004407.4(DMP1):c.817A>T (p.Ile273Phe) | not provided [RCV005174806] | uncertain significance | 4 | 87662595 | 87662595 | Human | | name |
| 598185045 | CV3960381 | single nucleotide variant | NM_004407.4(DMP1):c.706G>A (p.Gly236Ser) | Inborn genetic diseases [RCV005333791] | likely benign | 4 | 87662484 | 87662484 | Human | 1 | name |
| 598185049 | CV3960382 | single nucleotide variant | NM_004407.4(DMP1):c.801T>G (p.Ile267Met) | Inborn genetic diseases [RCV005333792] | uncertain significance | 4 | 87662579 | 87662579 | Human | 1 | name |
| 598185054 | CV3960383 | single nucleotide variant | NM_004407.4(DMP1):c.732A>C (p.Glu244Asp) | Inborn genetic diseases [RCV005333793] | uncertain significance | 4 | 87662510 | 87662510 | Human | 1 | name |
| 13528676 | CV496345 | single nucleotide variant | NM_004407.4(DMP1):c.979C>T (p.Gln327Ter) | Hypophosphatemic rickets [RCV000609230] | likely pathogenic | 4 | 87662757 | 87662757 | Human | 2 | name |
| 15182178 | CV734758 | single nucleotide variant | NM_004407.4(DMP1):c.997G>A (p.Val333Ile) | DMP1-related disorder [RCV003968345]|not provided [RCV000907759] | likely benign | 4 | 87662775 | 87662775 | Human | 1 | name , trait , alternate_id |
| 28886826 | CV892449 | single nucleotide variant | NM_004407.4(DMP1):c.313G>A (p.Asp105Asn) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV001151270]|not provided [RCV001305654] | uncertain significance | 4 | 87662091 | 87662091 | Human | 1 | name |
| 28895579 | CV892450 | single nucleotide variant | NM_004407.4(DMP1):c.542G>A (p.Gly181Asp) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV001154330]|Inborn genetic diseases [RCV002559485] | uncertain significance | 4 | 87662320 | 87662320 | Human | 2 | name |
| 28895586 | CV892452 | single nucleotide variant | NM_004407.4(DMP1):c.724T>C (p.Ser242Pro) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV001154333]|not provided [RCV002070887]|not specified [RCV005419010] | likely benign | 4 | 87662502 | 87662502 | Human | 1 | name |
| 28897770 | CV892453 | single nucleotide variant | NM_004407.4(DMP1):c.905G>T (p.Arg302Ile) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV001155165]|Inborn genetic diseases [RCV004978064]|not provided [RCV002559492]|not specified [RCV005419011] | uncertain significance | 4 | 87662683 | 87662683 | Human | 2 | name |
| 28897773 | CV892454 | single nucleotide variant | NM_004407.4(DMP1):c.996C>G (p.Asn332Lys) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV001155166]|Inborn genetic diseases [RCV002559493]|not provided [RCV001760112] | uncertain significance | 4 | 87662774 | 87662774 | Human | 2 | name |
| 38478574 | CV944139 | single nucleotide variant | NM_004407.4(DMP1):c.447G>C (p.Glu149Asp) | not provided [RCV001233950] | uncertain significance | 4 | 87662225 | 87662225 | Human | | name |
| 38458079 | CV953859 | single nucleotide variant | NM_004407.4(DMP1):c.517C>T (p.Arg173Trp) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV002480839]|not provided [RCV001246225] | uncertain significance | 4 | 87662295 | 87662295 | Human | 1 | name |
| 126750333 | CV1005488 | single nucleotide variant | NM_004407.4(DMP1):c.1256C>T (p.Pro419Leu) | not provided [RCV001315899] | uncertain significance | 4 | 87663034 | 87663034 | Human | | name |
| 150409558 | CV1195979 | single nucleotide variant | NM_004407.4(DMP1):c.1396A>G (p.Ser466Gly) | not provided [RCV001572710] | likely benign|uncertain significance | 4 | 87663174 | 87663174 | Human | | name |
| 151751502 | CV1357299 | single nucleotide variant | NM_004407.4(DMP1):c.1123G>A (p.Val375Ile) | not provided [RCV001894378] | uncertain significance | 4 | 87662901 | 87662901 | Human | | name |
| 151748412 | CV1362538 | single nucleotide variant | NM_004407.4(DMP1):c.1490A>T (p.His497Leu) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV002484849]|not provided [RCV001968913] | uncertain significance | 4 | 87663268 | 87663268 | Human | 1 | name |
| 151838223 | CV1487347 | single nucleotide variant | NM_004407.4(DMP1):c.1502T>C (p.Ile501Thr) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV002479411]|not provided [RCV001935790] | uncertain significance | 4 | 87663280 | 87663280 | Human | 1 | name |
| 156410108 | CV1888182 | single nucleotide variant | NM_004407.4(DMP1):c.1040C>T (p.Ser347Leu) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005356266]|not provided [RCV003071938] | uncertain significance | 4 | 87662818 | 87662818 | Human | 1 | name |
| 156364806 | CV1897259 | single nucleotide variant | NM_004407.4(DMP1):c.1534G>T (p.Gly512Cys) | not provided [RCV002581985] | uncertain significance | 4 | 87663312 | 87663312 | Human | | name |
| 156370827 | CV1920215 | single nucleotide variant | NM_004407.4(DMP1):c.1168C>T (p.His390Tyr) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005034739]|Inborn genetic diseases [RCV004068933]|not provided [RCV002603161] | uncertain significance | 4 | 87662946 | 87662946 | Human | 2 | name |
| 156438752 | CV1947369 | single nucleotide variant | NM_004407.4(DMP1):c.1466G>A (p.Arg489Gln) | not provided [RCV003108699] | uncertain significance | 4 | 87663244 | 87663244 | Human | | name |
| 156107492 | CV1953866 | single nucleotide variant | NM_004407.4(DMP1):c.1183T>G (p.Ser395Ala) | not provided [RCV002571074] | uncertain significance | 4 | 87662961 | 87662961 | Human | | name |
| 155966092 | CV1978057 | single nucleotide variant | NM_004407.4(DMP1):c.1148C>T (p.Ser383Phe) | not provided [RCV002616962] | uncertain significance | 4 | 87662926 | 87662926 | Human | | name |
| 156391053 | CV1991253 | single nucleotide variant | NM_004407.4(DMP1):c.1280G>C (p.Ser427Thr) | not provided [RCV002634991] | uncertain significance | 4 | 87663058 | 87663058 | Human | | name |
| 156405052 | CV1994195 | single nucleotide variant | NM_004407.4(DMP1):c.1336G>A (p.Glu446Lys) | not provided [RCV002658207] | uncertain significance | 4 | 87663114 | 87663114 | Human | | name |
| 156045216 | CV1999210 | single nucleotide variant | NM_004407.4(DMP1):c.1109C>G (p.Pro370Arg) | not provided [RCV002659183] | uncertain significance | 4 | 87662887 | 87662887 | Human | | name |
| 156221035 | CV2025043 | single nucleotide variant | NM_004407.4(DMP1):c.1285A>G (p.Ser429Gly) | not provided [RCV002712146] | uncertain significance | 4 | 87663063 | 87663063 | Human | | name |
| 155911312 | CV2037641 | single nucleotide variant | NM_004407.4(DMP1):c.1314C>G (p.Ser438Arg) | not provided [RCV002771605] | uncertain significance | 4 | 87663092 | 87663092 | Human | | name |
| 156329023 | CV2050515 | single nucleotide variant | NM_004407.4(DMP1):c.1034A>T (p.Asn345Ile) | not provided [RCV002810569] | uncertain significance | 4 | 87662812 | 87662812 | Human | | name |
| 156372925 | CV2059282 | single nucleotide variant | NM_004407.4(DMP1):c.1215C>G (p.Asp405Glu) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005044995]|not provided [RCV002814444] | uncertain significance | 4 | 87662993 | 87662993 | Human | 1 | name |
| 156330234 | CV2061285 | single nucleotide variant | NM_004407.4(DMP1):c.1068G>T (p.Gln356His) | not provided [RCV002810636] | uncertain significance | 4 | 87662846 | 87662846 | Human | | name |
| 156338947 | CV2106676 | single nucleotide variant | NM_004407.4(DMP1):c.1153G>A (p.Glu385Lys) | not provided [RCV002938790] | uncertain significance | 4 | 87662931 | 87662931 | Human | | name |
| 155963073 | CV2132035 | single nucleotide variant | NM_004407.4(DMP1):c.1493A>G (p.Asn498Ser) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005034554]|not provided [RCV002995253] | uncertain significance | 4 | 87663271 | 87663271 | Human | 1 | name |
| 156320244 | CV2138020 | single nucleotide variant | NM_004407.4(DMP1):c.1240T>G (p.Phe414Val) | not provided [RCV002963147] | uncertain significance | 4 | 87663018 | 87663018 | Human | | name |
| 155921122 | CV2212144 | single nucleotide variant | NM_004407.4(DMP1):c.1400A>G (p.Asn467Ser) | Inborn genetic diseases [RCV002727456] | uncertain significance | 4 | 87663178 | 87663178 | Human | 1 | name |
| 155923172 | CV2280243 | single nucleotide variant | NM_004407.4(DMP1):c.1030G>A (p.Ala344Thr) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005036571]|Inborn genetic diseases [RCV002859952] | uncertain significance | 4 | 87662808 | 87662808 | Human | 2 | name |
| 156066146 | CV2317818 | single nucleotide variant | NM_004407.4(DMP1):c.1304C>G (p.Ser435Cys) | Inborn genetic diseases [RCV002925346] | uncertain significance | 4 | 87663082 | 87663082 | Human | 1 | name |
| 156167092 | CV2319981 | single nucleotide variant | NM_004407.4(DMP1):c.1308C>G (p.His436Gln) | Inborn genetic diseases [RCV002929629] | likely benign | 4 | 87663086 | 87663086 | Human | 1 | name |
| 156140093 | CV2350459 | single nucleotide variant | NM_004407.4(DMP1):c.1319C>T (p.Ala440Val) | Inborn genetic diseases [RCV003003896] | uncertain significance | 4 | 87663097 | 87663097 | Human | 1 | name |
| 401861224 | CV2758811 | single nucleotide variant | NM_004407.4(DMP1):c.1508A>C (p.Asp503Ala) | Inborn genetic diseases [RCV003342516] | uncertain significance | 4 | 87663286 | 87663286 | Human | 1 | name |
| 401891955 | CV2777163 | single nucleotide variant | NM_004407.4(DMP1):c.1124T>C (p.Val375Ala) | Inborn genetic diseases [RCV003369727] | uncertain significance | 4 | 87662902 | 87662902 | Human | 1 | name |
| 405207713 | CV2909105 | single nucleotide variant | NM_004407.4(DMP1):c.1401C>A (p.Asn467Lys) | not provided [RCV003566720] | uncertain significance | 4 | 87663179 | 87663179 | Human | | name |
| 405207719 | CV2909106 | single nucleotide variant | NM_004407.4(DMP1):c.1403C>T (p.Ser468Phe) | not provided [RCV003566721] | uncertain significance | 4 | 87663181 | 87663181 | Human | | name |
| 11595875 | CV294546 | single nucleotide variant | NM_004407.4(DMP1):c.1333G>A (p.Glu445Lys) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000375707]|not provided [RCV001850857] | uncertain significance | 4 | 87663111 | 87663111 | Human | 1 | name |
| 11595606 | CV296092 | single nucleotide variant | NM_004407.4(DMP1):c.1448A>C (p.Asn483Thr) | DMP1-related disorder [RCV003912487]|Hypophosphatemic rickets, autosomal recessive, 1 [RCV000372193]|not provided [RCV001513201] | benign|uncertain significance | 4 | 87663226 | 87663226 | Human | 2 | name , trait , alternate_id |
| 11582846 | CV299771 | single nucleotide variant | NM_004407.4(DMP1):c.1388A>G (p.Lys463Arg) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000262432]|not provided [RCV000881873] | benign|likely benign | 4 | 87663166 | 87663166 | Human | 1 | name |
| 11651030 | CV299780 | single nucleotide variant | NM_004407.4(DMP1):c.1456A>G (p.Ile486Val) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000296280] | uncertain significance | 4 | 87663234 | 87663234 | Human | 1 | name |
| 11590282 | CV299865 | single nucleotide variant | NM_004407.4(DMP1):c.1408G>A (p.Glu470Lys) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000317505]|Inborn genetic diseases [RCV005328248]|not provided [RCV003105880] | uncertain significance | 4 | 87663186 | 87663186 | Human | 2 | name |
| 405670193 | CV3240649 | single nucleotide variant | NM_004407.4(DMP1):c.1112C>T (p.Thr371Ile) | Inborn genetic diseases [RCV004368510] | uncertain significance | 4 | 87662890 | 87662890 | Human | 1 | name |
| 405670200 | CV3240650 | single nucleotide variant | NM_004407.4(DMP1):c.1425T>A (p.Ser475Arg) | Inborn genetic diseases [RCV004368511]|not provided [RCV005103391] | uncertain significance | 4 | 87663203 | 87663203 | Human | 1 | name |
| 597658642 | CV3659075 | single nucleotide variant | NM_004407.4(DMP1):c.1325G>A (p.Ser442Asn) | Inborn genetic diseases [RCV004976965] | uncertain significance | 4 | 87663103 | 87663103 | Human | 1 | name |
| 597696260 | CV3727903 | single nucleotide variant | NM_004407.4(DMP1):c.1115C>T (p.Thr372Ile) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005032996] | uncertain significance | 4 | 87662893 | 87662893 | Human | 1 | name |
| 597663161 | CV3727905 | single nucleotide variant | NM_004407.4(DMP1):c.1193A>G (p.Glu398Gly) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005043029]|Inborn genetic diseases [RCV005325955] | uncertain significance | 4 | 87662971 | 87662971 | Human | 2 | name |
| 597696269 | CV3727906 | single nucleotide variant | NM_004407.4(DMP1):c.1204G>A (p.Glu402Lys) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005032997] | uncertain significance | 4 | 87662982 | 87662982 | Human | 1 | name |
| 597696277 | CV3727907 | single nucleotide variant | NM_004407.4(DMP1):c.1310G>A (p.Ser437Asn) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005032998] | uncertain significance | 4 | 87663088 | 87663088 | Human | 1 | name |
| 597696289 | CV3727909 | single nucleotide variant | NM_004407.4(DMP1):c.1339A>G (p.Ser447Gly) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005032999] | uncertain significance | 4 | 87663117 | 87663117 | Human | 1 | name |
| 597696299 | CV3727910 | single nucleotide variant | NM_004407.4(DMP1):c.1465C>T (p.Arg489Trp) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005033000] | uncertain significance | 4 | 87663243 | 87663243 | Human | 1 | name |
| 597663180 | CV3727911 | single nucleotide variant | NM_004407.4(DMP1):c.1531G>A (p.Asp511Asn) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005043031] | uncertain significance | 4 | 87663309 | 87663309 | Human | 1 | name |
| 597663191 | CV3727912 | single nucleotide variant | NM_004407.4(DMP1):c.1533C>G (p.Asp511Glu) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005043032] | uncertain significance | 4 | 87663311 | 87663311 | Human | 1 | name |
| 597830888 | CV3743621 | single nucleotide variant | NM_004407.4(DMP1):c.1288C>T (p.Gln430Ter) | not provided [RCV005062438] | pathogenic | 4 | 87663066 | 87663066 | Human | | name |
| 598185037 | CV3960379 | single nucleotide variant | NM_004407.4(DMP1):c.1287C>G (p.Ser429Arg) | Inborn genetic diseases [RCV005333789] | uncertain significance | 4 | 87663065 | 87663065 | Human | 1 | name |
| 12913609 | CV421502 | single nucleotide variant | NM_004407.4(DMP1):c.1102C>T (p.Pro368Ser) | not provided [RCV000494032] | uncertain significance | 4 | 87662880 | 87662880 | Human | | name |
| 13522379 | CV491339 | single nucleotide variant | NM_004407.4(DMP1):c.1433A>C (p.Asp478Ala) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV001156817]|not provided [RCV000591664] | uncertain significance | 4 | 87663211 | 87663211 | Human | 1 | name |
| 15154941 | CV734759 | single nucleotide variant | NM_004407.4(DMP1):c.1151G>A (p.Ser384Asn) | not provided [RCV000902048] | benign | 4 | 87662929 | 87662929 | Human | | name |
| 8625861 | CV80985 | single nucleotide variant | NM_004407.3(DMP1):c.1094G>A (p.Gly365Glu) | Malignant melanoma [RCV000061063] | not provided | 4 | 87662872 | 87662872 | Human | | name |
| 8631317 | CV86478 | single nucleotide variant | NM_004407.3(DMP1):c.1069G>A (p.Glu357Lys) | Malignant melanoma [RCV000066569] | not provided | 4 | 87662847 | 87662847 | Human | | name |
| 28901689 | CV892455 | single nucleotide variant | NM_004407.4(DMP1):c.1255C>T (p.Pro419Ser) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV001156815]|not provided [RCV002558366] | uncertain significance | 4 | 87663033 | 87663033 | Human | 1 | name |
| 28887252 | CV892457 | single nucleotide variant | NM_004407.4(DMP1):c.1534G>A (p.Gly512Ser) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV001151398]|Inborn genetic diseases [RCV004032795]|not provided [RCV001858990]|not specified [RCV005408713] | uncertain significance | 4 | 87663312 | 87663312 | Human | 2 | name |
| 28887258 | CV892458 | single nucleotide variant | NM_004407.4(DMP1):c.1538A>G (p.Tyr513Cys) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV001151399] | uncertain significance | 4 | 87663316 | 87663316 | Human | 1 | name |
| 38481522 | CV923620 | single nucleotide variant | NM_004407.4(DMP1):c.1267G>T (p.Glu423Ter) | not provided [RCV001218045] | uncertain significance | 4 | 87663045 | 87663045 | Human | | name |
| 126910940 | CV1037527 | microsatellite | NM_004407.4(DMP1):c.293GAG[1] (p.Gly99del) | DMP1-related disorder [RCV003946015]|not provided [RCV001354817] | benign|likely benign | 4 | 87662069 | 87662071 | Human | | name , trait , alternate_id |
| 150543926 | CV1313046 | deletion | NM_004407.4(DMP1):c.295_296del (p.Gly99fs) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV001783123] | pathogenic | 4 | 87662073 | 87662074 | Human | | name |
| 8560549 | CV23615 | deletion | NM_004407.4(DMP1):c.1485_1491del (p.Tyr496fs) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV000009107] | pathogenic | 4 | 87663262 | 87663268 | Human | 1 | name |
| 597663171 | CV3727908 | deletion | NM_004407.4(DMP1):c.1332_1361del (p.Glu445_Ser454del) | Hypophosphatemic rickets, autosomal recessive, 1 [RCV005043030] | uncertain significance | 4 | 87663108 | 87663137 | Human | 1 | name |
