List of variants in gene ATP7B reported as pathogenic by Counsyl

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 36

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HGVS	dbSNP	gnomAD frequency
NM_000053.4(ATP7B):c.2755C>G (p.Arg919Gly)	rs121907993	0.00013
NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter)	rs193922109	0.00009
NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln)	rs121907996	0.00006
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)	rs121907992	0.00006
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser)	rs137853285	0.00005
NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr)	rs60431989	0.00004
NM_000053.4(ATP7B):c.2332C>T (p.Arg778Trp)	rs137853284	0.00003
NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu)	rs758355520	0.00003
NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter)	rs121907999	0.00003
NM_000053.4(ATP7B):c.1708-5T>G	rs770829226	0.00001
NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln)	rs752850609	0.00001
NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn)	rs28942075	0.00001
NM_000053.4(ATP7B):c.2519C>T (p.Pro840Leu)	rs768671894	0.00001
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val)	rs121907994	0.00001
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu)	rs201038679	0.00001
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr)	rs560952220	0.00001
NM_000053.4(ATP7B):c.111dup (p.Ala38fs)	rs1555296939
NM_000053.4(ATP7B):c.1708-1G>A	rs137853280
NM_000053.4(ATP7B):c.2009_2015del (p.Ile669_Tyr670insTer)	rs779904655
NM_000053.4(ATP7B):c.2145C>A (p.Tyr715Ter)	rs751202110
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs)	rs768729972
NM_000053.4(ATP7B):c.2304del (p.Met769fs)	rs137853287
NM_000053.4(ATP7B):c.2304dup (p.Met769fs)	rs137853287
NM_000053.4(ATP7B):c.2333G>A (p.Arg778Gln)	rs28942074
NM_000053.4(ATP7B):c.2532del (p.Val845fs)	rs755709270
NM_000053.4(ATP7B):c.3147del (p.Thr1050fs)	rs762031690
NM_000053.4(ATP7B):c.3402del (p.Ala1135fs)	rs137853281
NM_000053.4(ATP7B):c.3722C>T (p.Ala1241Val)	rs1555283994
NM_000053.4(ATP7B):c.3904-2A>G	rs1057517233
NM_000053.4(ATP7B):c.4006del (p.Ile1336fs)	rs1555283564
NM_000053.4(ATP7B):c.4051C>T (p.Gln1351Ter)	rs786204578
NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs)	rs771603301
NM_000053.4(ATP7B):c.4114C>T (p.Gln1372Ter)	rs755584106
NM_000053.4(ATP7B):c.525dup (p.Val176fs)	rs558037268
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter)	rs572147914
NM_000053.4(ATP7B):c.994G>T (p.Glu332Ter)	rs761084829

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