ClinVar Miner

List of variants in gene TH reported as likely pathogenic for Segawa syndrome, autosomal recessive

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Total variants: 31
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HGVS dbSNP
NM_000360.3(TH):c.-71C>T rs549435434
NM_199292.3(TH):c.1014del (p.Phe339fs) rs1057516491
NM_199292.3(TH):c.1070+1G>A rs1057516736
NM_199292.3(TH):c.1090del (p.Leu364fs) rs1057517162
NM_199292.3(TH):c.1197+1G>A rs1057516819
NM_199292.3(TH):c.1269_1273del (p.Ser425fs) rs1554922593
NM_199292.3(TH):c.12_43del (p.Asp5fs) rs1554924357
NM_199292.3(TH):c.12dup (p.Asp5fs) rs1057516716
NM_199292.3(TH):c.1359C>A (p.Tyr453Ter) rs1554922441
NM_199292.3(TH):c.1375C>T (p.Gln459Ter) rs786204540
NM_199292.3(TH):c.1375del (p.Gln459fs) rs1554922434
NM_199292.3(TH):c.1493A>G (p.Asp498Gly) rs771351747
NM_199292.3(TH):c.184-9_200del rs1057516874
NM_199292.3(TH):c.296del (p.Leu99fs) rs1554923852
NM_199292.3(TH):c.2T>C (p.Met1Thr) rs201932766
NM_199292.3(TH):c.371_389dup (p.Val131fs) rs1554923810
NM_199292.3(TH):c.385C>T (p.Arg129Ter) rs1057519220
NM_199292.3(TH):c.405+1G>A rs1554923802
NM_199292.3(TH):c.457C>T (p.Arg153Ter) rs771610752
NM_199292.3(TH):c.580+1G>A rs1554923513
NM_199292.3(TH):c.580+1G>C rs1554923513
NM_199292.3(TH):c.580+2T>C rs1057517003
NM_199292.3(TH):c.707T>C (p.Leu236Pro) rs121917763
NM_199292.3(TH):c.737+1G>A rs1266265578
NM_199292.3(TH):c.737+2T>A rs1554923317
NM_199292.3(TH):c.737_737+15del rs1554923305
NM_199292.3(TH):c.789-2A>G rs1554923121
NM_199292.3(TH):c.807_808del (p.Leu270fs) rs1564918287
NM_199292.3(TH):c.810del (p.Lys271fs) rs1057516712
NM_199292.3(TH):c.938dup (p.Thr314fs) rs1554923004
NM_199292.3(TH):c.943G>A (p.Gly315Ser) rs1288483479

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