List of variants in gene ATP7B reported as not provided for Wilson disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala)	rs138427376	0.00342
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln)	rs76151636	0.00100
NM_000053.4(ATP7B):c.2921C>T (p.Thr974Met)	rs201061621	0.00032
NM_000053.4(ATP7B):c.1915C>T (p.His639Tyr)	rs200728096	0.00011
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu)	rs28942074	0.00010
NM_000053.4(ATP7B):c.2336G>A (p.Trp779Ter)	rs137853283	0.00009
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser)	rs137853285	0.00005
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys)	rs755554442	0.00004
NM_000053.4(ATP7B):c.4319G>A (p.Arg1440Gln)	rs201483366	0.00001
NM_000053.4(ATP7B):c.2304dup (p.Met769fs)	rs137853287
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly)	rs137853284
NM_000053.4(ATP7B):c.2337G>A (p.Trp779Ter)	rs137853282
NM_000053.4(ATP7B):c.3206A>G (p.His1069Arg)	rs201738147
NM_000053.4(ATP7B):c.3402del (p.Ala1135fs)	rs137853281
NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs)	rs771603301
NM_000053.4(ATP7B):c.778dup (p.Gln260fs)	rs786204570

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