ClinVar Miner

List of variants in gene ANK1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001142446.2(ANK1):c.127-39554G>A rs183894680 0.01664
NM_000037.4(ANK1):c.3224C>T (p.Thr1075Ile) rs35213384 0.01414
NM_000037.4(ANK1):c.5544+91C>T rs72638959 0.00849
NM_000037.4(ANK1):c.*1708G>C rs182454354 0.00775
NM_000037.4(ANK1):c.1590C>T (p.Ala530=) rs61758865 0.00673
NM_000037.4(ANK1):c.-204C>G rs117184692 0.00514
NM_000037.4(ANK1):c.3399C>T (p.Thr1133=) rs117516263 0.00465
NM_000037.4(ANK1):c.3033C>T (p.Ser1011=) rs61758866 0.00422
NM_000037.4(ANK1):c.1506C>T (p.Ala502=) rs34387324 0.00407
NM_000037.4(ANK1):c.2403G>A (p.Lys801=) rs147130318 0.00376
NM_000037.4(ANK1):c.5097-34C>T rs185434561 0.00261
NM_000037.4(ANK1):c.981C>T (p.Tyr327=) rs61758867 0.00253
NM_000037.4(ANK1):c.1387G>A (p.Val463Ile) rs140085544 0.00105
NM_000037.4(ANK1):c.1404+15C>T rs201598401 0.00067
NM_000037.4(ANK1):c.2196+6G>A rs200761553 0.00064
NM_000037.4(ANK1):c.3234C>T (p.Pro1078=) rs755219802 0.00011
NM_000037.4(ANK1):c.3652C>T (p.Arg1218Trp) rs142542271 0.00009
NM_000037.4(ANK1):c.1197G>A (p.Ala399=) rs756075877 0.00005
NM_000037.4(ANK1):c.1327A>G (p.Met443Val) rs769619019 0.00002
NM_000037.4(ANK1):c.1108-1G>T rs1586412723
NM_000037.4(ANK1):c.1270C>T (p.Leu424=)
NM_000037.4(ANK1):c.1801-17G>A rs786205243
NM_000037.4(ANK1):c.2559-1G>A
NM_000037.4(ANK1):c.303A>T (p.Gly101=) rs1586511504
NM_000037.4(ANK1):c.3762G>A (p.Gly1254=)
NM_000037.4(ANK1):c.3802A>T (p.Lys1268Ter) rs1554543126
NM_000037.4(ANK1):c.3829G>A (p.Val1277Met) rs148942046
NM_000037.4(ANK1):c.3858+6A>C
NM_000037.4(ANK1):c.4056C>T (p.Thr1352=)
NM_000037.4(ANK1):c.4376del (p.Gly1459fs)
NM_000037.4(ANK1):c.4974C>T (p.Asp1658=) rs149859024
NM_000037.4(ANK1):c.5080G>A (p.Glu1694Lys) rs1812685689
NM_000037.4(ANK1):c.5167G>A (p.Glu1723Lys)
NM_000037.4(ANK1):c.5395-1209G>A
NM_000037.4(ANK1):c.5395-1222C>T
NM_000037.4(ANK1):c.5544+15G>T
NM_000037.4(ANK1):c.721A>G (p.Thr241Ala)
NM_000037.4(ANK1):c.7T>C (p.Tyr3His)

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