List of variants studied for disorder of copper metabolism by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)	rs72552259	0.00149
NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter)	rs193922109	0.00009
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met)	rs786204718	0.00003
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp)	rs370736173	0.00001
NM_000052.7(ATP7A):c.3049G>A (p.Gly1017Arg)	rs1557236754
NM_000052.7(ATP7A):c.3140G>A (p.Gly1047Glu)	rs1557237050
NM_000053.4(ATP7B):c.1907C>A (p.Pro636His)	rs1593739354
NM_000053.4(ATP7B):c.2701A>G (p.Lys901Glu)	rs1593695760

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