ClinVar Miner

List of variants in gene THOC2 reported as uncertain significance for X-linked disease

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_001081550.2(THOC2):c.133T>A (p.Phe45Ile) rs1569441509
NM_001081550.2(THOC2):c.1550A>G (p.Tyr517Cys) rs1556036052
NM_001081550.2(THOC2):c.1996A>G (p.Asn666Asp) rs1603255389
NM_001081550.2(THOC2):c.2170A>G (p.Lys724Glu) rs1603252573
NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys) rs1556302160
NM_001081550.2(THOC2):c.2642A>G (p.Tyr881Cys) rs1603246794
NM_001081550.2(THOC2):c.2942G>A (p.Cys981Tyr) rs1556017474
NM_001081550.2(THOC2):c.3223C>T (p.Arg1075Trp) rs1603242504
NM_001081550.2(THOC2):c.3300G>T (p.Trp1100Cys) rs1603242447
NM_001081550.2(THOC2):c.3323C>T (p.Ser1108Leu) rs1556015593
NM_001081550.2(THOC2):c.3361A>G (p.Arg1121Gly) rs1556015553
NM_001081550.2(THOC2):c.3781A>C (p.Asn1261His) rs1556014537
NM_001081550.2(THOC2):c.4646A>G (p.Lys1549Arg) rs1603229932
NM_001081550.2(THOC2):c.4678-572_*18+1195del

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