ClinVar Miner

List of variants studied for disorder of copper metabolism by SingHealth Duke-NUS Institute of Precision Medicine

Included ClinVar conditions (7):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu)	rs28942074	0.00010
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val)	rs121907994	0.00001
NM_000053.4(ATP7B):c.1543+1G>T	rs1360279134
NM_000053.4(ATP7B):c.2351C>T (p.Ala784Val)	rs1566532164

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