ClinVar Miner

List of variants in gene THOC2 studied for X-linked disease

Included ClinVar conditions (275):
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Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001081550.2(THOC2):c.3058-9C>T rs2072914 0.35686
NM_001081550.2(THOC2):c.2317-47A>G rs3764750 0.26774
NM_001081550.2(THOC2):c.1261G>A (p.Ala421Thr) rs145905162 0.00036
NM_001081550.2(THOC2):c.2481+42A>G rs780461608 0.00005
NM_001081550.2(THOC2):c.2734G>C (p.Ala912Pro) rs1256411821 0.00002
NM_001081550.2(THOC2):c.2414A>G (p.Asn805Ser) rs769718049 0.00001
NM_001081550.2(THOC2):c.3324G>A (p.Ser1108=) rs375768878 0.00001
NM_001081550.2(THOC2):c.3613G>C (p.Gly1205Arg) rs753209373 0.00001
NM_001081550.2(THOC2):c.1010T>C (p.Val337Ala)
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.149A>C (p.Tyr50Ser) rs1603326578
NM_001081550.2(THOC2):c.1550A>G (p.Tyr517Cys) rs1556036052
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.195G>C (p.Gln65His) rs2050956716
NM_001081550.2(THOC2):c.1967A>G (p.Asp656Gly) rs2047664414
NM_001081550.2(THOC2):c.1996A>G (p.Asn666Asp) rs1603255389
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.2170A>G (p.Lys724Glu) rs1603252573
NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys) rs1556302160
NM_001081550.2(THOC2):c.2366G>A (p.Ser789Asn)
NM_001081550.2(THOC2):c.2399T>C (p.Ile800Thr) rs797045021
NM_001081550.2(THOC2):c.2642A>G (p.Tyr881Cys) rs1603246794
NM_001081550.2(THOC2):c.2695T>C (p.Tyr899His) rs2147617004
NM_001081550.2(THOC2):c.2942G>A (p.Cys981Tyr) rs1556017474
NM_001081550.2(THOC2):c.2983T>C (p.Tyr995His)
NM_001081550.2(THOC2):c.2993G>A (p.Arg998His) rs1326074013
NM_001081550.2(THOC2):c.3034T>C (p.Ser1012Pro) rs797045020
NM_001081550.2(THOC2):c.3038C>T (p.Thr1013Ile)
NM_001081550.2(THOC2):c.317A>G (p.Tyr106Cys)
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.3305A>G (p.Tyr1102Cys) rs2047177327
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.4135G>T (p.Val1379Phe)
NM_001081550.2(THOC2):c.4226G>A (p.Arg1409His)
NM_001081550.2(THOC2):c.4318A>G (p.Ile1440Val)
NM_001081550.2(THOC2):c.4338A>G (p.Pro1446=) rs367878305
NM_001081550.2(THOC2):c.4450-2A>G rs1556005930
NM_001081550.2(THOC2):c.4519+3A>G rs2046785257
NM_001081550.2(THOC2):c.4643A>C (p.Glu1548Ala)
NM_001081550.2(THOC2):c.4646A>G (p.Lys1549Arg) rs1603229932
NM_001081550.2(THOC2):c.4678-572_*18+1195del
NM_001081550.2(THOC2):c.623A>G (p.Asn208Ser)
NM_001081550.2(THOC2):c.769-20dup rs201356571
NM_001081550.2(THOC2):c.937C>T (p.Leu313Phe) rs797045019

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