ClinVar Miner

List of variants in gene THOC2 studied for X-linked syndromic intellectual disability

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_001081550.2(THOC2):c.1313T>C (p.Leu438Pro) rs797045018
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.2087C>T (p.Thr696Ile) rs1556024875
NM_001081550.2(THOC2):c.2138G>A (p.Gly713Asp) rs1556023928
NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys) rs1556302160
NM_001081550.2(THOC2):c.2399T>C (p.Ile800Thr) rs797045021
NM_001081550.2(THOC2):c.3034T>C (p.Ser1012Pro) rs797045020
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.3503+4A>C rs1556015437
NM_001081550.2(THOC2):c.3559C>T (p.His1187Tyr) rs1556014935
NM_001081550.2(THOC2):c.3781A>C (p.Asn1261His) rs1556014537
NM_001081550.2(THOC2):c.4450-2A>G rs1556005930
NM_001081550.2(THOC2):c.937C>T (p.Leu313Phe) rs797045019

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