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: 23
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HGVS dbSNP gnomAD frequency
NM_001148.6(ANK2):c.9286A>G (p.Ser3096Gly) rs144158934 0.00218
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141 0.00085
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys) rs34591340 0.00023
NM_001148.6(ANK2):c.9853A>C (p.Ile3285Leu) rs144603824 0.00011
NM_001148.6(ANK2):c.877G>A (p.Asp293Asn) rs752213208 0.00009
NM_001148.6(ANK2):c.10453G>A (p.Ala3485Thr) rs754354916 0.00007
NM_001148.6(ANK2):c.1397C>T (p.Thr466Met) rs786205722 0.00005
NM_001148.6(ANK2):c.8395G>A (p.Asp2799Asn) rs374145576 0.00004
NM_001148.6(ANK2):c.9679A>C (p.Thr3227Pro) rs140604600 0.00004
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.271G>A (p.Asp91Asn) rs372103163 0.00001
NM_001148.6(ANK2):c.8006A>T (p.Glu2669Val) rs773643165 0.00001
NM_001148.6(ANK2):c.10774G>T (p.Asp3592Tyr) rs777495627
NM_001148.6(ANK2):c.11009C>T (p.Thr3670Ile) rs45608232
NM_001148.6(ANK2):c.11488_11489inv (p.Glu3830Ser)
NM_001148.6(ANK2):c.1378A>G (p.Thr460Ala) rs368129159
NM_001148.6(ANK2):c.2191C>A (p.Pro731Thr) rs942680150
NM_001148.6(ANK2):c.2900+5175G>A rs760991174
NM_001148.6(ANK2):c.3584G>A (p.Gly1195Asp) rs2153959631
NM_001148.6(ANK2):c.8936G>C (p.Gly2979Ala) rs1217618151
NM_001148.6(ANK2):c.9245C>T (p.Thr3082Ile) rs770289485

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