List of variants in gene ATP7A reported as pathogenic for not provided

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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: 19

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HGVS	dbSNP	gnomAD frequency
NM_000052.7(ATP7A):c.1205del (p.Lys402fs)	rs398123133
NM_000052.7(ATP7A):c.1435C>T (p.Gln479Ter)	rs1569549695
NM_000052.7(ATP7A):c.1707+6_1707+9del	rs879253938
NM_000052.7(ATP7A):c.1782C>G (p.Tyr594Ter)	rs797045336
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter)	rs72554640
NM_000052.7(ATP7A):c.1974_1977dup (p.Phe660fs)	rs886044769
NM_000052.7(ATP7A):c.2019del (p.Met674fs)
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg)	rs72554644
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter)	rs72554645
NM_000052.7(ATP7A):c.2627-501C>T
NM_000052.7(ATP7A):c.2694del (p.Ser899fs)	rs886044881
NM_000052.7(ATP7A):c.2867G>A (p.Trp956Ter)	rs67273048
NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter)	rs72554650
NM_000052.7(ATP7A):c.3294+2T>C
NM_000052.7(ATP7A):c.3529C>T (p.Gln1177Ter)	rs2078030343
NM_000052.7(ATP7A):c.3802-1G>T	rs398123135
NM_000052.7(ATP7A):c.3911A>G (p.Asn1304Ser)	rs151340632
NM_000052.7(ATP7A):c.3915_3921del (p.Asp1305fs)	rs1557238590
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter)	rs151340633

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