ClinVar Miner

List of variants in gene ANK2 studied for Congenital long QT syndrome

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001148.6(ANK2):c.10861C>G (p.Leu3621Val) rs45570339 0.00327
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141 0.00085
NM_001148.6(ANK2):c.10708G>A (p.Glu3570Lys) rs180843436 0.00005
NM_001148.6(ANK2):c.11516G>C (p.Ser3839Thr) rs148654834 0.00004
NM_001148.6(ANK2):c.10900G>A (p.Val3634Ile) rs143228029 0.00002
NM_001148.6(ANK2):c.10858T>A (p.Trp3620Arg) rs199473346 0.00001
NM_001148.6(ANK2):c.11531C>A (p.Thr3844Asn) rs199473643 0.00001
NM_001148.6(ANK2):c.10243A>G (p.Thr3415Ala) rs864321653
NM_001148.6(ANK2):c.11086G>A (p.Glu3696Lys) rs199473347
NM_001148.6(ANK2):c.4963C>A (p.Leu1655Met) rs199473343

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