ClinVar Miner

List of variants reported as likely pathogenic for Mental retardation, X-linked 12

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Total variants: 4
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HGVS dbSNP
NM_001081550.2(THOC2):c.2087C>T (p.Thr696Ile) rs1556024875
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

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