List of variants in gene ATP7A reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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: 22

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HGVS	dbSNP	gnomAD frequency
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln)	rs143214563	0.00089
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp)	rs146651049	0.00082
NM_000052.7(ATP7A):c.1009G>A (p.Ala337Thr)	rs138039591	0.00069
NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala)	rs201788154	0.00039
NM_000052.7(ATP7A):c.3449T>C (p.Ile1150Thr)	rs201225704	0.00018
NM_000052.7(ATP7A):c.1737A>G (p.Val579=)	rs189353691	0.00015
NM_000052.7(ATP7A):c.3153C>T (p.His1051=)	rs142998552	0.00014
NM_000052.7(ATP7A):c.3621G>A (p.Glu1207=)	rs141535376	0.00013
NM_000052.7(ATP7A):c.1138G>A (p.Val380Met)	rs149523862	0.00012
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys)	rs374162669	0.00012
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr)	rs368622356	0.00010
NM_000052.7(ATP7A):c.1427C>T (p.Thr476Ile)	rs782702847	0.00003
NM_000052.7(ATP7A):c.844A>G (p.Ile282Val)	rs782237314	0.00003
NM_000052.7(ATP7A):c.317C>T (p.Thr106Ile)	rs782647620	0.00002
NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe)	rs782364202	0.00002
NM_000052.7(ATP7A):c.1252A>T (p.Thr418Ser)	rs782505393	0.00001
NM_000052.7(ATP7A):c.514G>A (p.Val172Met)	rs782248978	0.00001
NM_000052.7(ATP7A):c.1083A>C (p.Ser361=)
NM_000052.7(ATP7A):c.1326T>C (p.Ala442=)	rs2149083467
NM_000052.7(ATP7A):c.1602T>G (p.Pro534=)
NM_000052.7(ATP7A):c.1770A>G (p.Arg590=)
NM_000052.7(ATP7A):c.3969T>C (p.Asp1323=)	rs369114635

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