ClinVar Miner

List of variants reported as likely pathogenic by GOLD service, Hunter New England Health

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Total variants: 6
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HGVS dbSNP
NM_001081550.2(THOC2):c.3503+4A>C rs1556015437
NM_001081550.2(THOC2):c.3559C>T (p.His1187Tyr) rs1556014935
NM_001081550.2(THOC2):c.4450-2A>G rs1556005930
NM_001257291.2(SLC9A7):c.1543C>T (p.Leu515Phe) rs1569507511
NM_001940.4(ATN1):c.3185A>G (p.His1062Arg) rs1565569158
NM_005650.3(TCF20):c.3801_3802GA[1] (p.Arg1268fs) rs1569146542

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