List of variants in gene ATP7A reported by Baylor Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000052.7(ATP7A):c.238C>T (p.Pro80Ser)	rs781951786	0.00001
NM_000052.7(ATP7A):c.4213C>T (p.Leu1405Phe)	rs2078077967	0.00001
GRCh37/hg19 Xq21.1(chrX:77244108-77244998)
NM_000052.7(ATP7A):c.1047T>A (p.Ser349Arg)	rs2077658544
NM_000052.7(ATP7A):c.1406A>G (p.Glu469Gly)	rs1377636628
NM_000052.7(ATP7A):c.1537G>A (p.Glu513Lys)	rs1569549699
NM_000052.7(ATP7A):c.1910C>G (p.Ser637Ter)
NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg)	rs797045344
NM_000052.7(ATP7A):c.2242G>A (p.Val748Ile)
NM_000052.7(ATP7A):c.3103G>A (p.Ala1035Thr)	rs2077968562
NM_000052.7(ATP7A):c.3284A>G (p.Tyr1095Cys)
NM_000052.7(ATP7A):c.3947T>G (p.Ile1316Ser)
NM_000052.7(ATP7A):c.722A>G (p.Gln241Arg)	rs2077656389

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