| 11602559 | CV318698 | single nucleotide variant | NM_001920.5(DCN):c.*51A>G | Congenital stromal corneal dystrophy [RCV000292070]|not provided [RCV004707048] | benign | 12 | 91146007 | 91146007 | Human | 2 | name |
| 28871770 | CV870554 | single nucleotide variant | NM_001920.5(DCN):c.*80C>T | Congenital stromal corneal dystrophy [RCV001114243] | uncertain significance | 12 | 91145978 | 91145978 | Human | 1 | name |
| 11659000 | CV318693 | single nucleotide variant | NM_001920.5(DCN):c.*443T>G | Congenital stromal corneal dystrophy [RCV000353941] | uncertain significance | 12 | 91145615 | 91145615 | Human | 1 | name |
| 11599644 | CV318694 | single nucleotide variant | NM_001920.5(DCN):c.*160C>T | Congenital stromal corneal dystrophy [RCV000267456]|not provided [RCV004707047] | benign | 12 | 91145898 | 91145898 | Human | 1 | name |
| 11604133 | CV318703 | single nucleotide variant | NM_001920.5(DCN):c.-187A>G | Congenital stromal corneal dystrophy [RCV000306630] | uncertain significance | 12 | 91182808 | 91182808 | Human | 1 | name |
| 11656132 | CV318707 | single nucleotide variant | NM_001920.4(DCN):c.-307A>G | Congenital stromal corneal dystrophy [RCV000331251] | uncertain significance | 12 | 91182928 | 91182928 | Human | 1 | name |
| 11610736 | CV318708 | single nucleotide variant | NM_001920.4(DCN):c.-325A>G | Congenital stromal corneal dystrophy [RCV000385796] | likely benign | 12 | 91182946 | 91182946 | Human | 1 | name |
| 11612647 | CV326991 | single nucleotide variant | NM_001920.5(DCN):c.*377T>C | Congenital stromal corneal dystrophy [RCV000261456] | benign|likely benign | 12 | 91145681 | 91145681 | Human | 1 | name |
| 11659864 | CV326994 | single nucleotide variant | NM_001920.5(DCN):c.*220G>C | Congenital stromal corneal dystrophy [RCV000362094] | uncertain significance | 12 | 91145838 | 91145838 | Human | 1 | name |
| 11622898 | CV327029 | single nucleotide variant | NM_001920.4(DCN):c.-249A>G | Congenital stromal corneal dystrophy [RCV000365929] | likely benign | 12 | 91182870 | 91182870 | Human | 1 | name |
| 11613760 | CV327035 | single nucleotide variant | NM_001920.4(DCN):c.-296C>T | Congenital stromal corneal dystrophy [RCV000271450] | likely benign | 12 | 91182917 | 91182917 | Human | 1 | name |
| 11619565 | CV333108 | single nucleotide variant | NM_001920.5(DCN):c.*148T>G | Congenital stromal corneal dystrophy [RCV000327162] | likely benign|uncertain significance | 12 | 91145910 | 91145910 | Human | 1 | name |
| 11613627 | CV333113 | single nucleotide variant | NM_001920.5(DCN):c.-180A>T | Congenital stromal corneal dystrophy [RCV000270165] | uncertain significance | 12 | 91182801 | 91182801 | Human | 1 | name |
| 11655174 | CV334826 | single nucleotide variant | NM_001920.5(DCN):c.*289A>T | Congenital stromal corneal dystrophy [RCV000323638] | uncertain significance | 12 | 91145769 | 91145769 | Human | 1 | name |
| 11624082 | CV334854 | single nucleotide variant | NM_001920.5(DCN):c.*105G>A | Congenital stromal corneal dystrophy [RCV000381737] | benign|likely benign | 12 | 91145953 | 91145953 | Human | 1 | name |
| 28911626 | CV870550 | single nucleotide variant | NM_001920.5(DCN):c.*566T>A | Congenital stromal corneal dystrophy [RCV001110884] | uncertain significance | 12 | 91145492 | 91145492 | Human | 1 | name |
| 28869006 | CV870551 | single nucleotide variant | NM_001920.5(DCN):c.*354A>G | Congenital stromal corneal dystrophy [RCV001112882] | uncertain significance | 12 | 91145704 | 91145704 | Human | 1 | name |
| 28869010 | CV870552 | single nucleotide variant | NM_001920.5(DCN):c.*351T>C | Congenital stromal corneal dystrophy [RCV001112883] | uncertain significance | 12 | 91145707 | 91145707 | Human | 1 | name |
| 28869013 | CV870553 | single nucleotide variant | NM_001920.5(DCN):c.*341A>G | Congenital stromal corneal dystrophy [RCV001112884] | uncertain significance | 12 | 91145717 | 91145717 | Human | 1 | name |
| 11625096 | CV327027 | single nucleotide variant | NM_001920.5(DCN):c.212-6T>C | Congenital stromal corneal dystrophy [RCV000394942]|DCN-related disorder [RCV003957612]|not provided [RCV002522258] | benign|likely benign | 12 | 91164723 | 91164723 | Human | 1 | name , trait , alternate_id |
| 597850725 | CV3746935 | single nucleotide variant | NM_001920.5(DCN):c.211+9G>T | not provided [RCV005060563] | likely benign | 12 | 91178333 | 91178333 | Human | | name |
| 405103028 | CV3119585 | deletion | NM_001920.5(DCN):c.324+19del | not provided [RCV003811847] | benign | 12 | 91164586 | 91164586 | Human | | name |
| 11608839 | CV318702 | single nucleotide variant | NM_001920.5(DCN):c.33A>G (p.Ala11=) | Congenital stromal corneal dystrophy [RCV000360157]|not provided [RCV000957290] | benign|likely benign | 12 | 91178520 | 91178520 | Human | 1 | name |
| 11617555 | CV327028 | single nucleotide variant | NM_001920.5(DCN):c.54G>A (p.Pro18=) | Congenital stromal corneal dystrophy [RCV000305864]|not provided [RCV002520843] | benign|likely benign | 12 | 91178499 | 91178499 | Human | 1 | name |
| 156330927 | CV2210727 | single nucleotide variant | NM_001920.5(DCN):c.10A>G (p.Thr4Ala) | Inborn genetic diseases [RCV002673303] | uncertain significance | 12 | 91178543 | 91178543 | Human | 1 | name |
| 11620790 | CV327024 | single nucleotide variant | NM_001920.5(DCN):c.282C>T (p.Thr94=) | Congenital stromal corneal dystrophy [RCV000340881]|not provided [RCV000965906] | benign | 12 | 91164647 | 91164647 | Human | 1 | name |
| 28911671 | CV870560 | single nucleotide variant | NM_001920.5(DCN):c.210G>A (p.Leu70=) | Congenital stromal corneal dystrophy [RCV001110969] | uncertain significance | 12 | 91178343 | 91178343 | Human | 1 | name |
| 156392795 | CV2123637 | single nucleotide variant | NM_001920.5(DCN):c.798C>G (p.Ala266=) | not provided [RCV002944085] | likely benign | 12 | 91151741 | 91151741 | Human | | name |
| 156154288 | CV2395073 | single nucleotide variant | NM_001920.5(DCN):c.92A>G (p.Asp31Gly) | Inborn genetic diseases [RCV002764309] | uncertain significance | 12 | 91178461 | 91178461 | Human | 1 | name |
| 11624530 | CV327004 | single nucleotide variant | NM_001920.5(DCN):c.975G>A (p.Ser325=) | Congenital stromal corneal dystrophy [RCV000387412] | benign|likely benign | 12 | 91146163 | 91146163 | Human | 1 | name |
| 11625935 | CV334859 | single nucleotide variant | NM_001920.5(DCN):c.879C>T (p.Tyr293=) | Congenital stromal corneal dystrophy [RCV000405011] | likely benign | 12 | 91151660 | 91151660 | Human | 1 | name |
| 15173292 | CV738897 | single nucleotide variant | NM_001920.5(DCN):c.703A>C (p.Arg235=) | Congenital stromal corneal dystrophy [RCV001110218]|not provided [RCV000905834] | benign | 12 | 91153139 | 91153139 | Human | 1 | name |
| 28911242 | CV870559 | single nucleotide variant | NM_001920.5(DCN):c.555G>T (p.Pro185=) | Congenital stromal corneal dystrophy [RCV001110222] | likely benign | 12 | 91157172 | 91157172 | Human | 1 | name |
| 8591256 | CV131908 | deletion | NM_001920.5(DCN):c.962del (p.Lys321fs) | Congenital stromal corneal dystrophy [RCV000114315] | pathogenic | 12 | 91146176 | 91146176 | Human | 1 | name |
| 156177024 | CV2220318 | single nucleotide variant | NM_001920.5(DCN):c.130C>G (p.Arg44Gly) | Inborn genetic diseases [RCV002742049] | uncertain significance | 12 | 91178423 | 91178423 | Human | 1 | name |
| 156008366 | CV2299861 | single nucleotide variant | NM_001920.5(DCN):c.233A>T (p.Asp78Val) | Inborn genetic diseases [RCV002883871] | uncertain significance | 12 | 91164696 | 91164696 | Human | 1 | name |
| 8600362 | CV31909 | deletion | NM_001920.5(DCN):c.967del (p.Ser323fs) | Congenital stromal corneal dystrophy [RCV000018366] | pathogenic | 12 | 91146171 | 91146171 | Human | 1 | name |
| 405291795 | CV3221117 | single nucleotide variant | NM_001920.5(DCN):c.1050C>A (p.Arg350=) | DCN-related disorder [RCV003964220] | likely benign | 12 | 91146088 | 91146088 | Human | | name , trait , alternate_id |
| 405691391 | CV3243300 | single nucleotide variant | NM_001920.5(DCN):c.142C>A (p.Pro48Thr) | Inborn genetic diseases [RCV004373382] | uncertain significance | 12 | 91178411 | 91178411 | Human | 1 | name |
| 8601077 | CV34154 | deletion | NM_001920.5(DCN):c.941del (p.Pro314fs) | Congenital stromal corneal dystrophy [RCV000020465] | pathogenic | 12 | 91146197 | 91146197 | Human | 1 | name |
| 597673470 | CV3652164 | single nucleotide variant | NM_001920.5(DCN):c.121C>T (p.Pro41Ser) | Inborn genetic diseases [RCV004981657] | uncertain significance | 12 | 91178432 | 91178432 | Human | 1 | name |
| 597948150 | CV3800886 | single nucleotide variant | NM_001920.5(DCN):c.1065C>T (p.Leu355=) | not provided [RCV005135286] | benign | 12 | 91146073 | 91146073 | Human | | name |
| 8621820 | CV76571 | deletion | NM_001920.5(DCN):c.947del (p.Gly316fs) | Congenital stromal corneal dystrophy [RCV000055876] | pathogenic | 12 | 91146191 | 91146191 | Human | 1 | name |
| 28911672 | CV870561 | single nucleotide variant | NM_001920.5(DCN):c.127G>A (p.Asp43Asn) | Congenital stromal corneal dystrophy [RCV001110970] | uncertain significance | 12 | 91178426 | 91178426 | Human | 1 | name |
| 156149070 | CV2154324 | single nucleotide variant | NM_001920.5(DCN):c.856G>A (p.Gly286Ser) | not provided [RCV003022788] | uncertain significance | 12 | 91151683 | 91151683 | Human | | name |
| 155977700 | CV2214894 | single nucleotide variant | NM_001920.5(DCN):c.697A>G (p.Ile233Val) | Inborn genetic diseases [RCV002688071] | uncertain significance | 12 | 91153145 | 91153145 | Human | 1 | name |
| 329373741 | CV2452638 | single nucleotide variant | NM_001920.5(DCN):c.638C>T (p.Thr213Ile) | Inborn genetic diseases [RCV003210582] | uncertain significance | 12 | 91157089 | 91157089 | Human | 1 | name |
| 329389110 | CV2467159 | single nucleotide variant | NM_001920.5(DCN):c.437A>G (p.Glu146Gly) | Inborn genetic diseases [RCV003216137] | uncertain significance | 12 | 91158397 | 91158397 | Human | 1 | name |
| 401759842 | CV2701747 | single nucleotide variant | NM_001920.5(DCN):c.941C>T (p.Pro314Leu) | Inborn genetic diseases [RCV003257008] | uncertain significance | 12 | 91146197 | 91146197 | Human | 1 | name |
| 401895905 | CV2772309 | single nucleotide variant | NM_001920.5(DCN):c.554C>T (p.Pro185Leu) | Inborn genetic diseases [RCV003373532] | uncertain significance | 12 | 91157173 | 91157173 | Human | 1 | name |
| 401888243 | CV2788187 | single nucleotide variant | NM_001920.5(DCN):c.658C>T (p.Pro220Ser) | Inborn genetic diseases [RCV003367628] | uncertain significance | 12 | 91153184 | 91153184 | Human | 1 | name |
| 405167030 | CV3069683 | single nucleotide variant | NM_001920.5(DCN):c.959A>G (p.Lys320Arg) | Inborn genetic diseases [RCV004374245]|not provided [RCV003727528] | uncertain significance | 12 | 91146179 | 91146179 | Human | 1 | name |
| 11611555 | CV318701 | single nucleotide variant | NM_001920.5(DCN):c.529A>T (p.Ile177Phe) | Congenital stromal corneal dystrophy [RCV000396540] | benign|likely benign | 12 | 91158305 | 91158305 | Human | 1 | name |
| 405691397 | CV3243301 | single nucleotide variant | NM_001920.5(DCN):c.878A>G (p.Tyr293Cys) | Inborn genetic diseases [RCV004373383] | uncertain significance | 12 | 91151661 | 91151661 | Human | 1 | name |
| 11621805 | CV327006 | single nucleotide variant | NM_001920.5(DCN):c.917T>C (p.Val306Ala) | Congenital stromal corneal dystrophy [RCV000352672]|not provided [RCV000957100] | benign|likely benign | 12 | 91146221 | 91146221 | Human | 1 | name |
| 11620275 | CV327008 | single nucleotide variant | NM_001920.5(DCN):c.621T>G (p.Ile207Met) | Congenital stromal corneal dystrophy [RCV000335101] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 91157106 | 91157106 | Human | 1 | name |
| 11617028 | CV333109 | single nucleotide variant | NM_001920.5(DCN):c.424A>G (p.Lys142Glu) | Congenital stromal corneal dystrophy [RCV000300052]|DCN-related disorder [RCV003910151]|not provided [RCV000948899] | benign | 12 | 91158410 | 91158410 | Human | 1 | name , trait , alternate_id |
| 11616243 | CV334856 | single nucleotide variant | NM_001920.5(DCN):c.944C>A (p.Pro315His) | Congenital stromal corneal dystrophy [RCV000293139] | likely benign|uncertain significance | 12 | 91146194 | 91146194 | Human | 1 | name |
| 11614783 | CV334860 | single nucleotide variant | NM_001920.5(DCN):c.803C>T (p.Thr268Met) | Congenital stromal corneal dystrophy [RCV000280004]|not provided [RCV000965905] | benign | 12 | 91151736 | 91151736 | Human | 1 | name |
| 407458179 | CV3430339 | single nucleotide variant | NM_001920.5(DCN):c.512A>G (p.Asn171Ser) | Inborn genetic diseases [RCV004611440] | uncertain significance | 12 | 91158322 | 91158322 | Human | 1 | name |
| 407458182 | CV3430340 | single nucleotide variant | NM_001920.5(DCN):c.385G>A (p.Val129Met) | Inborn genetic diseases [RCV004611441] | uncertain significance | 12 | 91158449 | 91158449 | Human | 1 | name |
| 407458184 | CV3430341 | single nucleotide variant | NM_001920.5(DCN):c.510C>G (p.Phe170Leu) | Inborn genetic diseases [RCV004611442] | uncertain significance | 12 | 91158324 | 91158324 | Human | 1 | name |
| 407458186 | CV3430342 | single nucleotide variant | NM_001920.5(DCN):c.865G>A (p.Ala289Thr) | Inborn genetic diseases [RCV004611443] | uncertain significance | 12 | 91151674 | 91151674 | Human | 1 | name |
| 597673464 | CV3652163 | single nucleotide variant | NM_001920.5(DCN):c.895C>T (p.Leu299Phe) | Inborn genetic diseases [RCV004981656] | uncertain significance | 12 | 91146243 | 91146243 | Human | 1 | name |
| 597673476 | CV3652165 | single nucleotide variant | NM_001920.5(DCN):c.719G>C (p.Ser240Thr) | Inborn genetic diseases [RCV004981658] | uncertain significance | 12 | 91153123 | 91153123 | Human | 1 | name |
| 597673481 | CV3652166 | single nucleotide variant | NM_001920.5(DCN):c.433C>T (p.Pro145Ser) | Inborn genetic diseases [RCV004981659] | uncertain significance | 12 | 91158401 | 91158401 | Human | 1 | name |
| 597673489 | CV3652167 | single nucleotide variant | NM_001920.5(DCN):c.929G>A (p.Ser310Asn) | Inborn genetic diseases [RCV004981660] | likely benign | 12 | 91146209 | 91146209 | Human | 1 | name |
| 597673495 | CV3652168 | single nucleotide variant | NM_001920.5(DCN):c.448A>C (p.Lys150Gln) | Inborn genetic diseases [RCV004981661] | uncertain significance | 12 | 91158386 | 91158386 | Human | 1 | name |
| 597673500 | CV3652169 | single nucleotide variant | NM_001920.5(DCN):c.602A>C (p.Lys201Thr) | Inborn genetic diseases [RCV004981662] | uncertain significance | 12 | 91157125 | 91157125 | Human | 1 | name |
| 598262451 | CV3963726 | single nucleotide variant | NM_001920.5(DCN):c.643A>G (p.Ile215Val) | Inborn genetic diseases [RCV005325386] | uncertain significance | 12 | 91157084 | 91157084 | Human | 1 | name |
| 598262453 | CV3963727 | single nucleotide variant | NM_001920.5(DCN):c.323A>G (p.His108Arg) | Inborn genetic diseases [RCV005325387] | uncertain significance | 12 | 91164606 | 91164606 | Human | 1 | name |
| 14693513 | CV620460 | deletion | NM_001920.5(DCN):c.47_50del (p.Ala16fs) | Congenital stromal corneal dystrophy [RCV000779120] | uncertain significance | 12 | 91178503 | 91178506 | Human | | name |
| 28911239 | CV870556 | single nucleotide variant | NM_001920.5(DCN):c.671C>T (p.Thr224Met) | Congenital stromal corneal dystrophy [RCV001110219]|Inborn genetic diseases [RCV002556161] | benign|uncertain significance | 12 | 91153171 | 91153171 | Human | 2 | name |
| 28911240 | CV870557 | single nucleotide variant | NM_001920.5(DCN):c.632A>G (p.Asn211Ser) | Congenital stromal corneal dystrophy [RCV001110220] | uncertain significance | 12 | 91157095 | 91157095 | Human | 1 | name |
| 28911241 | CV870558 | single nucleotide variant | NM_001920.5(DCN):c.560A>G (p.Lys187Arg) | Congenital stromal corneal dystrophy [RCV001110221] | uncertain significance | 12 | 91157167 | 91157167 | Human | 1 | name |
| 155984030 | CV2241073 | single nucleotide variant | NM_001920.5(DCN):c.1033A>G (p.Arg345Gly) | Inborn genetic diseases [RCV002732726] | uncertain significance | 12 | 91146105 | 91146105 | Human | 1 | name |
| 156149768 | CV2293012 | single nucleotide variant | NM_001920.5(DCN):c.1045G>A (p.Val349Met) | Inborn genetic diseases [RCV002850815] | uncertain significance | 12 | 91146093 | 91146093 | Human | 1 | name |
| 401830813 | CV2748437 | single nucleotide variant | NM_001920.5(DCN):c.1036T>G (p.Cys346Gly) | Congenital stromal corneal dystrophy [RCV003330046] | not provided | 12 | 91146102 | 91146102 | Human | | name |
| 401897729 | CV2772874 | single nucleotide variant | NM_001920.5(DCN):c.1014G>C (p.Glu338Asp) | Inborn genetic diseases [RCV003375899] | uncertain significance | 12 | 91146124 | 91146124 | Human | 1 | name |
| 401894897 | CV2782051 | single nucleotide variant | NM_001920.5(DCN):c.1048C>T (p.Arg350Cys) | Inborn genetic diseases [RCV003371984] | uncertain significance | 12 | 91146090 | 91146090 | Human | 1 | name |
| 11619664 | CV326998 | single nucleotide variant | NM_001920.5(DCN):c.1062A>T (p.Gln354His) | Congenital stromal corneal dystrophy [RCV000328205] | uncertain significance | 12 | 91146076 | 91146076 | Human | 1 | name |
| 598262459 | CV3963729 | single nucleotide variant | NM_001920.5(DCN):c.1049G>A (p.Arg350His) | Inborn genetic diseases [RCV005325389] | uncertain significance | 12 | 91146089 | 91146089 | Human | 1 | name |
| 28871773 | CV870555 | single nucleotide variant | NM_001920.5(DCN):c.1066G>A (p.Gly356Arg) | Congenital stromal corneal dystrophy [RCV001114244]|Inborn genetic diseases [RCV004032183] | likely benign|uncertain significance | 12 | 91146072 | 91146072 | Human | 2 | name |