ClinVar Miner

Variants in gene KCNA5 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 20
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HGVS dbSNP gnomAD frequency
NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys) rs12720445 0.00612
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.1595C>T (p.Pro532Leu) rs17221812 0.00127
NM_002234.4(KCNA5):c.79G>A (p.Gly27Ser) rs201238766 0.00105
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.1672G>A (p.Gly558Arg) rs201328038 0.00016
NM_002234.4(KCNA5):c.36T>C (p.Gly12=) rs886049572 0.00016
NM_002234.4(KCNA5):c.1329C>T (p.Ile443=) rs147209278 0.00013
NM_002234.4(KCNA5):c.797C>T (p.Thr266Ile) rs369750762 0.00012
NM_002234.4(KCNA5):c.544G>A (p.Gly182Arg) rs755408841 0.00008
NM_002234.4(KCNA5):c.464A>G (p.Tyr155Cys) rs202117321 0.00007
NM_002234.4(KCNA5):c.1539C>T (p.Pro513=) rs145832242 0.00004
NM_002234.4(KCNA5):c.1210C>T (p.Leu404=) rs886049576 0.00001
NM_002234.4(KCNA5):c.1701G>A (p.Gly567=) rs771735295 0.00001
NM_002234.4(KCNA5):c.186G>C (p.Ser62=) rs760015626
NM_002234.4(KCNA5):c.213_245del (p.Asp72_Pro82del) rs144879674
NM_002234.4(KCNA5):c.859_860delinsTT (p.Ala287Leu) rs1565465582

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