ClinVar Miner

List of variants in gene CALM3 reported as uncertain significance for congenital heart disease

Included ClinVar conditions (290):
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Gene type:
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_005184.4(CALM3):c.421+4A>G rs373529765 0.00018
NM_005184.4(CALM3):c.4-3C>T rs756875833 0.00001
NC_000019.9:g.(?_47109064)_(47112410_?)dup
NM_005184.4(CALM3):c.131C>T (p.Pro44Leu) rs1599758674
NM_005184.4(CALM3):c.179-3del rs1446437806
NM_005184.4(CALM3):c.24G>C (p.Glu8Asp) rs1001080500
NM_005184.4(CALM3):c.259C>T (p.Arg87Ter)
NM_005184.4(CALM3):c.308C>T (p.Ala103Val) rs1568666713
NM_005184.4(CALM3):c.310G>A (p.Ala104Thr)
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.34+3G>A rs775799940
NM_005184.4(CALM3):c.367G>A (p.Asp123Asn) rs2122249867
NM_005184.4(CALM3):c.370G>A (p.Glu124Lys)
NM_005184.4(CALM3):c.388G>C (p.Asp130His) rs1568666846
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.404G>A (p.Gly135Asp) rs1471376840
NM_005184.4(CALM3):c.421+5G>A
NM_005184.4(CALM3):c.421+6T>G
NM_005184.4(CALM3):c.422-3_422-2del rs1971813349
NM_005184.4(CALM3):c.426T>G (p.Phe142Leu)
NM_005184.4(CALM3):c.442G>A (p.Ala148Thr)
NM_005184.4(CALM3):c.47C>G (p.Ala16Gly) rs1599758635

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