| 12896462 | CV390101 | single nucleotide variant | NM_197947.3(CLEC7A):c.*2A>G | not provided [RCV004707272]|not specified [RCV000455374] | benign | 12 | 10118456 | 10118456 | Human | | name |
| 126734899 | CV1020961 | single nucleotide variant | NM_197947.3(CLEC7A):c.493-2A>G | Familial chronic mucocutaneous candidiasis [RCV001334729] | pathogenic | 12 | 10123365 | 10123365 | Human | | name |
| 405258062 | CV3208138 | single nucleotide variant | NM_197947.3(CLEC7A):c.340+9A>G | CLEC7A-related disorder [RCV003941582] | likely benign | 12 | 10126562 | 10126562 | Human | | name , trait , alternate_id |
| 405269131 | CV3199128 | single nucleotide variant | NM_197947.3(CLEC7A):c.493-10T>C | CLEC7A-related disorder [RCV003912231] | likely benign | 12 | 10123373 | 10123373 | Human | | name , trait , alternate_id |
| 597791264 | CV3656619 | single nucleotide variant | NM_197947.3(CLEC7A):c.25A>C (p.Asn9His) | not specified [RCV004902266] | uncertain significance | 12 | 10130058 | 10130058 | Human | | name |
| 15128984 | CV753039 | single nucleotide variant | NM_197947.3(CLEC7A):c.189C>T (p.Val63=) | not provided [RCV000919748] | likely benign | 12 | 10127760 | 10127760 | Human | | name |
| 407462632 | CV3419466 | single nucleotide variant | NM_197947.3(CLEC7A):c.672C>T (p.His224=) | not specified [RCV004613001] | likely benign | 12 | 10118530 | 10118530 | Human | | name |
| 14399122 | CV614368 | single nucleotide variant | NM_197947.3(CLEC7A):c.414A>G (p.Leu138=) | Familial chronic mucocutaneous candidiasis [RCV000768185]|Familial chronic mucocutaneous candidiasis [RCV003224435] | uncertain significance | 12 | 10125375 | 10125375 | Human | 1 | name |
| 15169332 | CV713273 | single nucleotide variant | NM_197947.3(CLEC7A):c.397C>T (p.Leu133=) | Familial chronic mucocutaneous candidiasis [RCV002503078]|not provided [RCV000971790] | benign|likely benign | 12 | 10125392 | 10125392 | Human | 1 | name |
| 156049712 | CV2336539 | single nucleotide variant | NM_197947.3(CLEC7A):c.131G>A (p.Arg44His) | not specified [RCV004194745] | uncertain significance | 12 | 10127818 | 10127818 | Human | | name |
| 156006839 | CV2394257 | single nucleotide variant | NM_197947.3(CLEC7A):c.244G>A (p.Gly82Ser) | not specified [RCV004238490] | uncertain significance | 12 | 10126667 | 10126667 | Human | | name |
| 329363581 | CV2442322 | single nucleotide variant | NM_197947.3(CLEC7A):c.268G>A (p.Glu90Lys) | not specified [RCV004264795] | uncertain significance | 12 | 10126643 | 10126643 | Human | | name |
| 401730118 | CV2683958 | single nucleotide variant | NM_197947.3(CLEC7A):c.130C>T (p.Arg44Cys) | not specified [RCV004286506] | uncertain significance | 12 | 10127819 | 10127819 | Human | | name |
| 401868323 | CV2767203 | single nucleotide variant | NM_197947.3(CLEC7A):c.122C>T (p.Pro41Leu) | not specified [RCV004349382] | uncertain significance | 12 | 10127827 | 10127827 | Human | | name |
| 405781545 | CV3305530 | single nucleotide variant | NM_197947.3(CLEC7A):c.121C>G (p.Pro41Ala) | not specified [RCV004437042] | uncertain significance | 12 | 10127828 | 10127828 | Human | | name |
| 407462635 | CV3419467 | single nucleotide variant | NM_197947.3(CLEC7A):c.296C>T (p.Ser99Phe) | not specified [RCV004613002] | uncertain significance | 12 | 10126615 | 10126615 | Human | | name |
| 597791258 | CV3656617 | single nucleotide variant | NM_197947.3(CLEC7A):c.259A>G (p.Arg87Gly) | not specified [RCV004902264] | uncertain significance | 12 | 10126652 | 10126652 | Human | | name |
| 597791267 | CV3656620 | single nucleotide variant | NM_197947.3(CLEC7A):c.284C>T (p.Pro95Leu) | not specified [RCV004902267] | uncertain significance | 12 | 10126627 | 10126627 | Human | | name |
| 597791275 | CV3656622 | single nucleotide variant | NM_197947.3(CLEC7A):c.121C>A (p.Pro41Thr) | not specified [RCV004902269] | uncertain significance | 12 | 10127828 | 10127828 | Human | | name |
| 597791278 | CV3656623 | single nucleotide variant | NM_197947.3(CLEC7A):c.251T>G (p.Phe84Cys) | not specified [RCV004902270] | uncertain significance | 12 | 10126660 | 10126660 | Human | | name |
| 598243545 | CV3944633 | single nucleotide variant | NM_197947.3(CLEC7A):c.200T>C (p.Met67Thr) | not specified [RCV005321928] | uncertain significance | 12 | 10127749 | 10127749 | Human | | name |
| 126742290 | CV1017546 | single nucleotide variant | NM_197947.3(CLEC7A):c.536T>C (p.Phe179Ser) | Familial chronic mucocutaneous candidiasis [RCV001329912] | uncertain significance | 12 | 10123320 | 10123320 | Human | 1 | name |
| 8558104 | CV19505 | single nucleotide variant | NM_197947.3(CLEC7A):c.714T>G (p.Tyr238Ter) | Aspergillosis, susceptibility to [RCV000023528]|CLEC7A-related disorder [RCV003974796]|Familial chronic mucocutaneous candidiasis [RCV000004721]|Familial chronic mucocutaneous candidiasis [RCV002504746]|not provided [RCV004706445]|not specified [RCV000455914] | pathogenic|risk factor|benign|likely benign | 12 | 10118488 | 10118488 | Human | 5 | name , trait , alternate_id |
| 8558104 | CV19505 | single nucleotide variant | NM_197947.3(CLEC7A):c.714T>G (p.Tyr238Ter) | Aspergillosis, susceptibility to [RCV000023528]|CLEC7A-related disorder [RCV003974796]|Familial chronic mucocutaneous candidiasis [RCV000004721]|Familial chronic mucocutaneous candidiasis [RCV002504746]|not provided [RCV004706445]|not specified [RCV000455914] | pathogenic|risk factor|benign|likely benign | 12 | 10118488 | 10118489 | Human | 5 | name , trait , alternate_id |
| 156240547 | CV2203770 | single nucleotide variant | NM_197947.3(CLEC7A):c.530A>C (p.Asn177Thr) | not specified [RCV004074413] | uncertain significance | 12 | 10123326 | 10123326 | Human | | name |
| 155952173 | CV2238914 | single nucleotide variant | NM_197947.3(CLEC7A):c.704T>C (p.Val235Ala) | not specified [RCV004109818] | uncertain significance | 12 | 10118498 | 10118498 | Human | | name |
| 155950771 | CV2267906 | single nucleotide variant | NM_197947.3(CLEC7A):c.304G>C (p.Asp102His) | not specified [RCV004136199] | uncertain significance | 12 | 10126607 | 10126607 | Human | | name |
| 156150880 | CV2377512 | single nucleotide variant | NM_197947.3(CLEC7A):c.385A>G (p.Lys129Glu) | not specified [RCV004225673] | uncertain significance | 12 | 10125404 | 10125404 | Human | | name |
| 156153834 | CV2395019 | single nucleotide variant | NM_197947.3(CLEC7A):c.673G>A (p.Val225Met) | not specified [RCV004236710] | uncertain significance | 12 | 10118529 | 10118529 | Human | | name |
| 155926805 | CV2395843 | single nucleotide variant | NM_197947.3(CLEC7A):c.407T>G (p.Met136Arg) | not specified [RCV004235360] | uncertain significance | 12 | 10125382 | 10125382 | Human | | name |
| 407462637 | CV3419468 | single nucleotide variant | NM_197947.3(CLEC7A):c.554G>A (p.Arg185Gln) | not specified [RCV004613003] | uncertain significance | 12 | 10123302 | 10123302 | Human | | name |
| 407462640 | CV3419469 | single nucleotide variant | NM_197947.3(CLEC7A):c.522A>C (p.Gln174His) | not specified [RCV004613004] | uncertain significance | 12 | 10123334 | 10123334 | Human | | name |
| 12849099 | CV363686 | single nucleotide variant | NM_197947.3(CLEC7A):c.482C>T (p.Ser161Leu) | not provided [RCV000424017] | benign | 12 | 10125307 | 10125307 | Human | | name |
| 597791261 | CV3656618 | single nucleotide variant | NM_197947.3(CLEC7A):c.343G>A (p.Val115Ile) | not specified [RCV004902265] | uncertain significance | 12 | 10125446 | 10125446 | Human | | name |
| 15099178 | CV724826 | single nucleotide variant | NM_197947.3(CLEC7A):c.739A>T (p.Met247Leu) | CLEC7A-related disorder [RCV003968136]|not provided [RCV000891897] | likely benign | 12 | 10118463 | 10118463 | Human | 2 | name , trait , alternate_id |
| 15108928 | CV724827 | single nucleotide variant | NM_197947.3(CLEC7A):c.668T>G (p.Ile223Ser) | not provided [RCV000893765] | benign | 12 | 10118534 | 10118534 | Human | | name |
| 15197705 | CV724828 | single nucleotide variant | NM_197947.3(CLEC7A):c.547C>T (p.Leu183Phe) | not provided [RCV000890139] | benign|likely benign | 12 | 10123309 | 10123309 | Human | 1 | name |
| 15197705 | CV724828 | single nucleotide variant | NM_197947.3(CLEC7A):c.547C>T (p.Leu183Phe) | not provided [RCV000890139] | benign|likely benign | 12 | 10123309 | 10123310 | Human | 1 | name |