ClinVar Miner

List of variants in gene KCNA5 reported by Biesecker Lab/Clinical Genomics Section, National Institutes of Health

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Total variants: 14
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HGVS dbSNP gnomAD frequency
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.1150G>A (p.Gly384Arg) rs76708779 0.00450
NM_002234.4(KCNA5):c.929C>T (p.Pro310Leu) rs17215402 0.00439
NM_002234.4(KCNA5):c.919C>T (p.Pro307Ser) rs17215409 0.00241
NM_002234.4(KCNA5):c.633G>C (p.Glu211Asp) rs35853292 0.00128
NM_002234.4(KCNA5):c.634C>T (p.Arg212Cys) rs77281462 0.00088
NM_002234.4(KCNA5):c.898G>A (p.Gly300Ser) rs148708451 0.00019
NM_002234.4(KCNA5):c.251A>C (p.Glu84Ala) rs377036305 0.00018
NM_002234.4(KCNA5):c.701G>T (p.Arg234Leu) rs371521698 0.00012
NM_002234.4(KCNA5):c.464A>G (p.Tyr155Cys) rs202117321 0.00007
NM_002234.4(KCNA5):c.913G>A (p.Ala305Thr) rs199794307 0.00007
NM_002234.4(KCNA5):c.551G>A (p.Arg184His) rs375080039 0.00004
NM_002234.4(KCNA5):c.966C>G (p.Asp322Glu) rs199525305

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