ClinVar Miner

List of variants in gene ATP7B reported as uncertain significance by Invitae

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Total variants: 48
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HGVS dbSNP
NM_000053.4(ATP7B):c.1155A>C (p.Glu385Asp)
NM_000053.4(ATP7B):c.1172C>T (p.Ser391Leu) rs750724856
NM_000053.4(ATP7B):c.1191G>T (p.Gly397=)
NM_000053.4(ATP7B):c.1198A>G (p.Thr400Ala)
NM_000053.4(ATP7B):c.1415C>T (p.Pro472Leu) rs771789585
NM_000053.4(ATP7B):c.1628C>G (p.Ala543Gly)
NM_000053.4(ATP7B):c.1707+2dup
NM_000053.4(ATP7B):c.1829C>T (p.Pro610Leu) rs368381292
NM_000053.4(ATP7B):c.1840G>T (p.Gly614Cys) rs376565432
NM_000053.4(ATP7B):c.2078C>G (p.Ser693Cys) rs1212479289
NM_000053.4(ATP7B):c.2122-3C>T
NM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu)
NM_000053.4(ATP7B):c.2314G>A (p.Val772Met)
NM_000053.4(ATP7B):c.2338C>G (p.Leu780Val)
NM_000053.4(ATP7B):c.2486A>G (p.Asp829Gly) rs1566503575
NM_000053.4(ATP7B):c.2622G>A (p.Ala874=)
NM_000053.4(ATP7B):c.2659G>A (p.Ala887Thr)
NM_000053.4(ATP7B):c.2787C>G (p.Ile929Met)
NM_000053.4(ATP7B):c.2921C>T (p.Thr974Met) rs201061621
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg) rs193922104
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg) rs751078884
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val) rs371840514
NM_000053.4(ATP7B):c.3097A>G (p.Thr1033Ala) rs1555286620
NM_000053.4(ATP7B):c.3139G>T (p.Asp1047Tyr)
NM_000053.4(ATP7B):c.3155C>T (p.Pro1052Leu) rs778543794
NM_000053.4(ATP7B):c.3185C>T (p.Thr1062Ile)
NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His) rs778749563
NM_000053.4(ATP7B):c.3467G>A (p.Arg1156His) rs773917820
NM_000053.4(ATP7B):c.3671G>T (p.Arg1224Leu) rs532177115
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496
NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly) rs374628199
NM_000053.4(ATP7B):c.3797G>A (p.Gly1266Glu) rs1566444586
NM_000053.4(ATP7B):c.3912_3913delinsTT (p.Leu1304Phe) rs1555283732
NM_000053.4(ATP7B):c.3914T>C (p.Leu1305Pro)
NM_000053.4(ATP7B):c.406A>T (p.Arg136Trp) rs557577836
NM_000053.4(ATP7B):c.4077G>T (p.Met1359Ile)
NM_000053.4(ATP7B):c.4102C>G (p.Leu1368Val)
NM_000053.4(ATP7B):c.4163C>T (p.Ala1388Val) rs371458882
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972
NM_000053.4(ATP7B):c.4215C>T (p.Gly1405=)
NM_000053.4(ATP7B):c.4318C>T (p.Arg1440Trp)
NM_000053.4(ATP7B):c.4379A>G (p.Asp1460Gly)
NM_000053.4(ATP7B):c.482T>C (p.Ile161Thr)
NM_000053.4(ATP7B):c.550G>A (p.Val184Ile)
NM_000053.4(ATP7B):c.670A>T (p.Ile224Phe) rs200563529
NM_000053.4(ATP7B):c.854T>G (p.Val285Gly) rs1411865806
NM_000053.4(ATP7B):c.98T>C (p.Met33Thr) rs184868522

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