List of variants in gene ATP7B reported as pathogenic by Fulgent Genetics, Fulgent Genetics

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: 44

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HGVS	dbSNP	gnomAD frequency
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln)	rs76151636	0.00100
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)	rs121907998	0.00041
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val)	rs193922103	0.00015
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met)	rs72552255	0.00011
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu)	rs28942074	0.00010
NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter)	rs193922109	0.00009
NM_000053.4(ATP7B):c.2731-2A>G	rs367956522	0.00008
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.2123T>C (p.Leu708Pro)	rs121908000	0.00005
NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu)	rs764131178	0.00005
NM_000053.4(ATP7B):c.2332C>T (p.Arg778Trp)	rs137853284	0.00003
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met)	rs750019452	0.00003
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser)	rs121907990	0.00003
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys)	rs756029120	0.00002
NM_000053.4(ATP7B):c.1708-1G>C	rs137853280	0.00001
NM_000053.4(ATP7B):c.1746dup (p.Glu583fs)	rs1566559605	0.00001
NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp)	rs797045402	0.00001
NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln)	rs752850609	0.00001
NM_000053.4(ATP7B):c.2519C>T (p.Pro840Leu)	rs768671894	0.00001
NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile)	rs777629392	0.00001
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu)	rs201038679	0.00001
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter)	rs753250853	0.00001
NM_000053.4(ATP7B):c.51+4A>T	rs369488210	0.00001
GRCh37/hg19 13q14.3(chr13:52548050-52549324)
NM_000053.4(ATP7B):c.1145_1151del (p.Ser382fs)	rs1176709391
NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter)	rs778675259
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs)	rs753962912
NM_000053.4(ATP7B):c.213_214del (p.Val73fs)	rs1445951068
NM_000053.4(ATP7B):c.2304dup (p.Met769fs)	rs137853287
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly)	rs137853284
NM_000053.4(ATP7B):c.2795C>A (p.Ser932Ter)	rs1566498495
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val)	rs775055397
NM_000053.4(ATP7B):c.3147del (p.Thr1050fs)	rs762031690
NM_000053.4(ATP7B):c.3244-2A>G	rs786204584
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met)	rs193922107
NM_000053.4(ATP7B):c.3843dup (p.Val1282fs)	rs1957043255
NM_000053.4(ATP7B):c.3884C>T (p.Ala1295Val)	rs1340942427
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.524_525del (p.Lys175fs)	rs558037268
NM_000053.4(ATP7B):c.778dup (p.Gln260fs)	rs786204570
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter)	rs572147914
NM_000053.4(ATP7B):c.845del (p.Leu282fs)	rs193922111

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