ClinVar Miner

List of variants reported as likely pathogenic by Genetics Research Center,University of Social Welfare and Rehabilitation Sciences

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Total variants: 5
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HGVS dbSNP
NM_001363118.2(SLC52A2):c.973T>G (p.Cys325Gly)
NM_020632.3(ATP6V0A4):c.707AGA[1] (p.Lys237del)
NM_024678.6(NARS2):c.1339A>G (p.Met447Val)
NM_147196.2(TMIE):c.250C>T (p.Arg84Trp) rs28942097
NM_207034.3(EDN3):c.293C>T (p.Thr98Met)

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