ClinVar Miner

List of variants studied for Wilson disease by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (1):
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Total variants: 12
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NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967
NM_000053.4(ATP7B):c.1708-5T>G rs770829226
NM_000053.4(ATP7B):c.1924G>T (p.Asp642Tyr) rs72552285
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998
NM_000053.4(ATP7B):c.2480G>T (p.Arg827Leu) rs368589213
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met) rs72552255
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu) rs201038679
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met) rs776280797
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met) rs193922107
NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter) rs193922109
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704

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