ClinVar Miner

List of variants in gene KCNA5 reported as benign for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_002234.4(KCNA5):c.1149T>C (p.Gly383=) rs2359641 0.98412
NM_002234.4(KCNA5):c.-167C>T rs3741930 0.43501
NM_002234.4(KCNA5):c.*508A>T rs1056468 0.23863
NM_002234.4(KCNA5):c.381C>T (p.Ser127=) rs45504599 0.02823
NM_002234.4(KCNA5):c.*736A>T rs66942317 0.02811
NM_002234.4(KCNA5):c.751G>A (p.Ala251Thr) rs12720442 0.01115
NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys) rs12720445 0.00612
NM_002234.4(KCNA5):c.1020C>T (p.Leu340=) rs72546671 0.00541
NM_002234.4(KCNA5):c.1150G>A (p.Gly384Arg) rs76708779 0.00450
NM_002234.4(KCNA5):c.1497G>A (p.Leu499=) rs17221805 0.00450
NM_002234.4(KCNA5):c.615G>C (p.Leu205=) rs12720443 0.00441
NM_002234.4(KCNA5):c.929C>T (p.Pro310Leu) rs17215402 0.00439
NM_002234.4(KCNA5):c.570C>T (p.Asn190=) rs12720444 0.00368
NM_002234.4(KCNA5):c.471C>T (p.Asp157=) rs200395850 0.00061
NM_002234.4(KCNA5):c.207G>T (p.Pro69=) rs757133156 0.00030
NM_002234.4(KCNA5):c.180G>A (p.Ala60=) rs376660949 0.00013
NM_002234.4(KCNA5):c.1149_1150inv (p.Gly384Arg)
NM_002234.4(KCNA5):c.1170G>A (p.Gly390=) rs200060072
NM_002234.4(KCNA5):c.1353C>G (p.Ala451=) rs767826909
NM_002234.4(KCNA5):c.1353C>T (p.Ala451=) rs767826909
NM_002234.4(KCNA5):c.229C>T (p.Pro77Ser) rs202083721
NM_002234.4(KCNA5):c.92G>T (p.Gly31Val) rs61737395

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