List of variants in gene ATP7B reported as benign by Invitae

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: 48

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HGVS	dbSNP	gnomAD frequency
NM_000053.4(ATP7B):c.1544-53A>C	rs2147363	0.69725
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala)	rs1801249	0.57256
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys)	rs732774	0.56484
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg)	rs1061472	0.54674
NM_000053.4(ATP7B):c.3903+6C>T	rs2282057	0.53754
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu)	rs1801244	0.41941
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala)	rs1801243	0.41549
NM_000053.4(ATP7B):c.2448-25G>A	rs9526811	0.35419
NM_000053.4(ATP7B):c.2866-13G>C	rs7325983	0.10642
NM_000053.4(ATP7B):c.2973G>A (p.Thr991=)	rs1801246	0.04852
NM_000053.4(ATP7B):c.3009G>A (p.Ala1003=)	rs1801247	0.04023
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg)	rs7334118	0.02828
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=)	rs1801248	0.02598
NM_000053.4(ATP7B):c.1707+9T>C	rs114449708	0.01274
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=)	rs116091486	0.01159
NM_000053.4(ATP7B):c.3366A>G (p.Ala1122=)	rs59120265	0.01110
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=)	rs114771537	0.01071
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=)	rs73202048	0.00732
NM_000053.4(ATP7B):c.3403G>A (p.Ala1135Thr)	rs187200982	0.00499
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=)	rs116703544	0.00442
NM_000053.4(ATP7B):c.3015C>T (p.Asn1005=)	rs74085888	0.00430
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg)	rs74085882	0.00430
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=)	rs61733679	0.00362
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.2955C>T (p.Cys985=)	rs116587608	0.00227
NM_000053.4(ATP7B):c.3060+16G>T	rs76163470	0.00196
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile)	rs148399850	0.00192
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=)	rs145798966	0.00150
NM_000053.4(ATP7B):c.*16G>A	rs193922100	0.00105
NM_000053.4(ATP7B):c.1375G>T (p.Val459Leu)	rs183044693	0.00080
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=)	rs373081328	0.00078
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val)	rs534960245	0.00038
NM_000053.4(ATP7B):c.813C>T (p.Cys271=)	rs572147914	0.00013
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=)	rs370947152	0.00011
NM_000053.4(ATP7B):c.1947-4C>T	rs74904335	0.00007
NM_000053.4(ATP7B):c.2583C>T (p.Ala861=)	rs565717791	0.00007
NM_000053.4(ATP7B):c.4251A>G (p.Thr1417=)	rs546721020	0.00006
NM_000053.4(ATP7B):c.3151C>T (p.Leu1051=)	rs534622837	0.00001
NM_000053.4(ATP7B):c.1286-8dup
NM_000053.4(ATP7B):c.3061-6dup
NM_000053.4(ATP7B):c.3700-8dup
NM_000053.4(ATP7B):c.51+17del
NM_000053.4(ATP7B):c.52-3dup
NM_000053.4(ATP7B):c.540C>T (p.Asn180=)	rs537892210

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