List of variants in gene ATP7B 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: 37

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HGVS	dbSNP	gnomAD frequency
NM_000053.4(ATP7B):c.3403G>A (p.Ala1135Thr)	rs187200982	0.00499
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg)	rs74085882	0.00430
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala)	rs138427376	0.00342
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=)	rs61733684	0.00329
NM_000053.4(ATP7B):c.3557-6C>T	rs140708492	0.00314
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=)	rs11840224	0.00305
NM_000053.4(ATP7B):c.2355+13T>G	rs139211339	0.00293
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)	rs60986317	0.00282
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)	rs181250704	0.00151
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=)	rs145798966	0.00150
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)	rs72552259	0.00149
NM_000053.4(ATP7B):c.1278C>T (p.Val426=)	rs143556945	0.00135
NM_000053.4(ATP7B):c.1543+13C>T	rs200171850	0.00062
NM_000053.4(ATP7B):c.2475G>A (p.Val825=)	rs373528664	0.00014
NM_000053.4(ATP7B):c.3006C>T (p.Ala1002=)	rs369620062	0.00014
NM_000053.4(ATP7B):c.3402C>T (p.Pro1134=)	rs145887771	0.00012
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=)	rs370947152	0.00011
NM_000053.4(ATP7B):c.2028C>T (p.Asn676=)	rs764441090	0.00009
NM_000053.4(ATP7B):c.2805G>A (p.Thr935=)	rs141872590	0.00008
NM_000053.4(ATP7B):c.3160A>C (p.Arg1054=)	rs377586515	0.00006
NM_000053.4(ATP7B):c.2604C>T (p.Pro868=)	rs368902724	0.00005
NM_000053.4(ATP7B):c.1158G>T (p.Gly386=)	rs778775834	0.00004
NM_000053.4(ATP7B):c.3489C>T (p.Ser1163=)	rs193922106	0.00004
NM_000053.4(ATP7B):c.1686C>T (p.Ser562=)	rs138962570	0.00003
NM_000053.4(ATP7B):c.3417A>C (p.Ala1139=)	rs769949202	0.00003
NM_000053.4(ATP7B):c.3894C>T (p.Val1298=)	rs755044286	0.00003
NM_000053.4(ATP7B):c.1098C>T (p.Ala366=)	rs1430922191	0.00002
NM_000053.4(ATP7B):c.1830G>A (p.Pro610=)	rs375689672	0.00001
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=)	rs375007352	0.00001
NM_000053.4(ATP7B):c.4092G>T (p.Val1364=)	rs771057142	0.00001
NM_000053.4(ATP7B):c.423G>A (p.Gln141=)	rs750657137	0.00001
NM_000053.4(ATP7B):c.4296C>T (p.Ser1432=)	rs776367340	0.00001
NM_000053.4(ATP7B):c.1428A>G (p.Ala476=)	rs914451059
NM_000053.4(ATP7B):c.1707A>G (p.Thr569=)
NM_000053.4(ATP7B):c.216T>C (p.Cys72=)
NM_000053.4(ATP7B):c.3252A>C (p.Gly1084=)	rs2138859015
NM_000053.4(ATP7B):c.3660G>A (p.Thr1220=)	rs1253901147

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