List of variants in gene ATP7B reported as uncertain significance 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: 31

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HGVS	dbSNP	gnomAD frequency
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)	rs41292782	0.00155
NM_000053.4(ATP7B):c.98T>C (p.Met33Thr)	rs184868522	0.00064
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser)	rs186924074	0.00059
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val)	rs146303208	0.00053
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=)	rs200996053	0.00045
NM_000053.4(ATP7B):c.1555G>A (p.Val519Met)	rs192957846	0.00041
NM_000053.4(ATP7B):c.3368C>T (p.Pro1123Leu)	rs146623472	0.00026
NM_000053.4(ATP7B):c.3583G>A (p.Ala1195Thr)	rs202218969	0.00015
NM_000053.4(ATP7B):c.1621G>A (p.Glu541Lys)	rs187046823	0.00014
NM_000053.4(ATP7B):c.226A>G (p.Ile76Val)	rs200642204	0.00014
NM_000053.4(ATP7B):c.3275C>T (p.Thr1092Met)	rs368545738	0.00010
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met)	rs200290721	0.00006
NM_000053.4(ATP7B):c.1840G>T (p.Gly614Cys)	rs376565432	0.00004
NM_000053.4(ATP7B):c.4232G>A (p.Arg1411Gln)	rs769672624	0.00002
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=)	rs751202110	0.00001
NM_000053.4(ATP7B):c.2715G>C (p.Glu905Asp)	rs923227127	0.00001
NM_000053.4(ATP7B):c.3550A>G (p.Ile1184Val)	rs1057519121	0.00001
NM_000053.4(ATP7B):c.3557-8C>T	rs765668065	0.00001
NM_000053.4(ATP7B):c.941C>T (p.Ala314Val)	rs768949522	0.00001
NM_000053.4(ATP7B):c.994G>A (p.Glu332Lys)	rs761084829	0.00001
NM_000053.4(ATP7B):c.1289G>T (p.Ser430Ile)
NM_000053.4(ATP7B):c.1727C>T (p.Ala576Val)
NM_000053.4(ATP7B):c.1921T>G (p.Leu641Val)
NM_000053.4(ATP7B):c.2394C>G (p.Leu798=)	rs758690020
NM_000053.4(ATP7B):c.2448-4G>T	rs1593697433
NM_000053.4(ATP7B):c.3624G>T (p.Thr1208=)	rs377267217
NM_000053.4(ATP7B):c.3700-3T>G	rs2138592787
NM_000053.4(ATP7B):c.38G>A (p.Gly13Glu)
NM_000053.4(ATP7B):c.3999G>A (p.Leu1333=)	rs186435141
NM_000053.4(ATP7B):c.51+3G>C
NM_000053.4(ATP7B):c.835A>G (p.Ile279Val)	rs1952002052

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