ClinVar Miner

List of variants in gene ATP1A1 studied for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (103):
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000701.8(ATP1A1):c.741C>A (p.Thr247=) rs12079419 0.12034
NM_000701.8(ATP1A1):c.637-17C>T rs12079355 0.11276
NM_000701.8(ATP1A1):c.3043+8T>C rs12139437 0.08884
NM_000701.8(ATP1A1):c.3043+38T>C rs10924083 0.08517
NM_000701.8(ATP1A1):c.2952-37C>T rs12136995 0.08480
NM_000701.8(ATP1A1):c.1024-64G>A rs41464748 0.07904
NM_000701.8(ATP1A1):c.1110G>A (p.Thr370=) rs11540956 0.07885
NM_000701.8(ATP1A1):c.3057G>A (p.Lys1019=) rs9567 0.04948
NM_000701.8(ATP1A1):c.2355C>T (p.Pro785=) rs144039896 0.00060
NM_000701.8(ATP1A1):c.12+3G>T rs945278904 0.00006
NM_000701.8(ATP1A1):c.1496C>T (p.Ser499Leu) rs141400264 0.00005
NM_000701.8(ATP1A1):c.1001A>G (p.Glu334Gly) rs2101045655
NM_000701.8(ATP1A1):c.1024-100T>G rs56016633
NM_000701.8(ATP1A1):c.1223-32G>A rs12130872
NM_000701.8(ATP1A1):c.143T>G (p.Leu48Arg) rs1553190285
NM_000701.8(ATP1A1):c.1538G>A (p.Arg513Lys) rs1652651707
NM_000701.8(ATP1A1):c.1645G>A (p.Gly549Arg) rs2101052251
NM_000701.8(ATP1A1):c.1775T>C (p.Ile592Thr) rs1553192086
NM_000701.8(ATP1A1):c.1789G>A (p.Ala597Thr) rs2525861491
NM_000701.8(ATP1A1):c.1798C>A (p.Pro600Thr) rs1553192091
NM_000701.8(ATP1A1):c.1798C>G (p.Pro600Ala) rs1553192091
NM_000701.8(ATP1A1):c.1799C>G (p.Pro600Arg) rs2101055022
NM_000701.8(ATP1A1):c.1801_1802delinsTT (p.Asp601Phe) rs2525861568
NM_000701.8(ATP1A1):c.1888G>C (p.Gly630Arg) rs2525868872
NM_000701.8(ATP1A1):c.1974-14del rs77990511
NM_000701.8(ATP1A1):c.2432A>C (p.Asp811Ala) rs1553192783
NM_000701.8(ATP1A1):c.2531T>C (p.Leu844Pro) rs1653241392
NM_000701.8(ATP1A1):c.2809_2819del (p.Cys937fs) rs1653448255
NM_000701.8(ATP1A1):c.2957C>T (p.Thr986Ile) rs771215472
NM_000701.8(ATP1A1):c.3007G>A (p.Glu1003Lys) rs2525907688
NM_000701.8(ATP1A1):c.490A>T (p.Met164Leu)
NM_000701.8(ATP1A1):c.518G>A (p.Arg173Gln) rs2525829879
NM_000701.8(ATP1A1):c.620C>T (p.Ser207Phe)
NM_000701.8(ATP1A1):c.65A>G (p.Lys22Arg)
NM_000701.8(ATP1A1):c.676A>C (p.Thr226Pro) rs992887190
NM_000701.8(ATP1A1):c.755-77A>T rs12134095
NM_000701.8(ATP1A1):c.8A>C (p.Lys3Thr) rs976510541

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