ClinVar Miner

List of variants in gene CALM3 studied for congenital heart disease

Included ClinVar conditions (290):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 120
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HGVS dbSNP gnomAD frequency
NM_005184.4(CALM3):c.4-73T>C rs3729510 0.76680
NM_005184.4(CALM3):c.178+66T>C rs3729760 0.76459
NM_005184.4(CALM3):c.390C>T (p.Asp130=) rs35617141 0.00806
NM_005184.4(CALM3):c.201G>A (p.Pro67=) rs34089805 0.00271
NM_005184.4(CALM3):c.306C>T (p.Ser102=) rs146819515 0.00227
NM_005184.4(CALM3):c.267G>A (p.Ala89=) rs115265989 0.00146
NM_005184.4(CALM3):c.178+18C>T rs180722019 0.00115
NM_005184.4(CALM3):c.183C>T (p.Asn61=) rs3729761 0.00038
NM_005184.4(CALM3):c.421+4A>G rs373529765 0.00018
NM_005184.4(CALM3):c.309C>T (p.Ala103=) rs200095251 0.00014
NM_005184.4(CALM3):c.237C>T (p.Asp79=) rs147734536 0.00007
NM_005184.4(CALM3):c.444A>T (p.Ala148=) rs779594484 0.00006
NM_005184.4(CALM3):c.35-13C>G rs369539598 0.00003
NM_005184.4(CALM3):c.178+17G>A rs764944151 0.00002
NM_005184.4(CALM3):c.249G>A (p.Glu83=) rs755348000 0.00002
NM_005184.4(CALM3):c.35-10C>T rs748438358 0.00002
NM_005184.4(CALM3):c.354C>T (p.Thr118=) rs750712140 0.00002
NM_005184.4(CALM3):c.138A>G (p.Glu46=) rs1454292329 0.00001
NM_005184.4(CALM3):c.178+19G>A rs186405375 0.00001
NM_005184.4(CALM3):c.179-18C>T rs761694804 0.00001
NM_005184.4(CALM3):c.24G>A (p.Glu8=) rs1001080500 0.00001
NM_005184.4(CALM3):c.286-10C>G rs375255516 0.00001
NM_005184.4(CALM3):c.286-19C>G rs1478765429 0.00001
NM_005184.4(CALM3):c.3+13G>A rs759824845 0.00001
NM_005184.4(CALM3):c.324C>T (p.His108=) rs45587137 0.00001
NM_005184.4(CALM3):c.366G>A (p.Val122=) rs1261825623 0.00001
NM_005184.4(CALM3):c.4-3C>T rs756875833 0.00001
NM_005184.4(CALM3):c.402T>C (p.Asp134=) rs755022859 0.00001
NM_005184.4(CALM3):c.447G>A (p.Lys149=) rs746647108 0.00001
A103V
NC_000019.9:g.(?_47109064)_(47112410_?)dup
NM_005184.4(CALM3):c.108G>A (p.Val36=)
NM_005184.4(CALM3):c.12G>A (p.Gln4=)
NM_005184.4(CALM3):c.131C>T (p.Pro44Leu) rs1599758674
NM_005184.4(CALM3):c.132C>T (p.Pro44=)
NM_005184.4(CALM3):c.144G>A (p.Glu48=) rs1599758683
NM_005184.4(CALM3):c.147G>A (p.Leu49=)
NM_005184.4(CALM3):c.147G>T (p.Leu49=) rs760657005
NM_005184.4(CALM3):c.159C>A (p.Ile53=)
NM_005184.4(CALM3):c.159C>T (p.Ile53=)
NM_005184.4(CALM3):c.165G>A (p.Glu55=)
NM_005184.4(CALM3):c.174A>G (p.Ala58=) rs2122245693
NM_005184.4(CALM3):c.178+12A>G
NM_005184.4(CALM3):c.179-13C>T
NM_005184.4(CALM3):c.179-14del rs577585466
NM_005184.4(CALM3):c.179-3del rs1446437806
NM_005184.4(CALM3):c.192T>A (p.Ile64=)
NM_005184.4(CALM3):c.213C>T (p.Thr71=)
NM_005184.4(CALM3):c.24G>C (p.Glu8Asp) rs1001080500
NM_005184.4(CALM3):c.259C>T (p.Arg87Ter)
NM_005184.4(CALM3):c.273T>A (p.Arg91=) rs559783307
NM_005184.4(CALM3):c.27G>A (p.Gln9=)
NM_005184.4(CALM3):c.281A>C (p.Asp94Ala) rs1060502608
NM_005184.4(CALM3):c.285+17A>G
NM_005184.4(CALM3):c.286-4C>G
NM_005184.4(CALM3):c.286-8dup rs2122249132
NM_005184.4(CALM3):c.286G>C (p.Asp96His) rs1060502607
NM_005184.4(CALM3):c.3+11C>T rs2122211406
NM_005184.4(CALM3):c.3+14G>C
NM_005184.4(CALM3):c.3+17G>A
NM_005184.4(CALM3):c.3+18G>A rs767873951
NM_005184.4(CALM3):c.3+18dup rs761428143
NM_005184.4(CALM3):c.3+19T>G
NM_005184.4(CALM3):c.308C>T (p.Ala103Val) rs1568666713
NM_005184.4(CALM3):c.310G>A (p.Ala104Thr)
NM_005184.4(CALM3):c.318G>T (p.Leu106=)
NM_005184.4(CALM3):c.319C>T (p.Arg107Cys) rs1599759441
NM_005184.4(CALM3):c.325G>A (p.Val109Ile)
NM_005184.4(CALM3):c.332C>T (p.Thr111Met)
NM_005184.4(CALM3):c.333G>C (p.Thr111=) rs1274089736
NM_005184.4(CALM3):c.339G>C (p.Leu113=)
NM_005184.4(CALM3):c.34+11T>C
NM_005184.4(CALM3):c.34+3G>A rs775799940
NM_005184.4(CALM3):c.34+7C>G rs2122231385
NM_005184.4(CALM3):c.342G>A (p.Gly114=)
NM_005184.4(CALM3):c.35-13C>A
NM_005184.4(CALM3):c.35-14C>A
NM_005184.4(CALM3):c.35-14C>G rs370430097
NM_005184.4(CALM3):c.35-14C>T
NM_005184.4(CALM3):c.35-18T>C
NM_005184.4(CALM3):c.35-18T>G
NM_005184.4(CALM3):c.35-19C>T
NM_005184.4(CALM3):c.35-9T>C
NM_005184.4(CALM3):c.363G>A (p.Glu121=)
NM_005184.4(CALM3):c.367G>A (p.Asp123Asn) rs2122249867
NM_005184.4(CALM3):c.370G>A (p.Glu124Lys)
NM_005184.4(CALM3):c.387T>C (p.Ala129=) rs1271316314
NM_005184.4(CALM3):c.388G>C (p.Asp130His) rs1568666846
NM_005184.4(CALM3):c.389A>G (p.Asp130Gly) rs1599759554
NM_005184.4(CALM3):c.390C>G (p.Asp130Glu) rs35617141
NM_005184.4(CALM3):c.393C>T (p.Ile131=)
NM_005184.4(CALM3):c.394G>A (p.Asp132Asn) rs2122250160
NM_005184.4(CALM3):c.395A>T (p.Asp132Val) rs1057523474
NM_005184.4(CALM3):c.4-17C>G rs370333318
NM_005184.4(CALM3):c.4-5T>C rs2122231200
NM_005184.4(CALM3):c.4-6T>C
NM_005184.4(CALM3):c.404G>A (p.Gly135Asp) rs1471376840
NM_005184.4(CALM3):c.421+10G>T
NM_005184.4(CALM3):c.421+14A>G
NM_005184.4(CALM3):c.421+16G>A
NM_005184.4(CALM3):c.421+18T>C
NM_005184.4(CALM3):c.421+5G>A
NM_005184.4(CALM3):c.421+6T>G
NM_005184.4(CALM3):c.421G>A (p.Glu141Lys) rs1599759598
NM_005184.4(CALM3):c.422-20C>G
NM_005184.4(CALM3):c.422-3_422-2del rs1971813349
NM_005184.4(CALM3):c.422-5C>T
NM_005184.4(CALM3):c.422-7T>C
NM_005184.4(CALM3):c.422-8C>T rs1317120997
NM_005184.4(CALM3):c.422A>G (p.Glu141Gly) rs1555814427
NM_005184.4(CALM3):c.426T>G (p.Phe142Leu)
NM_005184.4(CALM3):c.429A>G (p.Val143=) rs2122252253
NM_005184.4(CALM3):c.442G>A (p.Ala148Thr)
NM_005184.4(CALM3):c.47C>G (p.Ala16Gly) rs1599758635
NM_005184.4(CALM3):c.51C>T (p.Phe17=)
NM_005184.4(CALM3):c.57C>A (p.Leu19=)
NM_005184.4(CALM3):c.66G>A (p.Lys22=) rs2122245298
NM_005184.4(CALM3):c.72A>G (p.Gly24=) rs2122245344
NM_005184.4(CALM3):c.75T>C (p.Asp25=)
NM_005184.4(CALM3):c.81T>C (p.Thr27=)

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