ClinVar Miner

List of variants in gene ANK2 reported as uncertain significance by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001148.6(ANK2):c.9286A>G (p.Ser3096Gly) rs144158934 0.00238
NM_001148.6(ANK2):c.10901T>A (p.Val3634Asp) rs66785829 0.00200
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141 0.00085
NM_001148.6(ANK2):c.4456G>C (p.Val1486Leu) rs149678604 0.00068
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys) rs34591340 0.00023
NM_001148.6(ANK2):c.9853A>C (p.Ile3285Leu) rs144603824 0.00012
NM_001148.6(ANK2):c.10447G>A (p.Asp3483Asn) rs1323284534 0.00003
NM_001148.6(ANK2):c.11509G>A (p.Glu3837Lys) rs766615247 0.00003
NM_001148.6(ANK2):c.2735A>G (p.His912Arg) rs139259028 0.00002
NM_001148.6(ANK2):c.11009C>T (p.Thr3670Ile) rs45608232
NM_001148.6(ANK2):c.2191C>A (p.Pro731Thr) rs942680150
NM_001148.6(ANK2):c.2900+5175G>A rs760991174
NM_001148.6(ANK2):c.9245C>T (p.Thr3082Ile) rs770289485

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