ClinVar Miner

List of variants reported as likely pathogenic for X-linked intellectual disability-short stature-overweight syndrome

Included ClinVar conditions (1):
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001081550.2(THOC2):c.149A>C (p.Tyr50Ser) rs1603326578
NM_001081550.2(THOC2):c.1844G>A (p.Cys615Tyr) rs2147667154
NM_001081550.2(THOC2):c.1942G>T (p.Ala648Ser) rs2047665750
NM_001081550.2(THOC2):c.2087C>T (p.Thr696Ile) rs1556024875
NM_001081550.2(THOC2):c.2695T>C (p.Tyr899His) rs2147617004
NM_001081550.2(THOC2):c.3305A>G (p.Tyr1102Cys) rs2047177327
NM_001081550.2(THOC2):c.34T>C (p.Trp12Arg) rs2148016775
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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