ClinVar Miner

List of variants in gene TSHR reported as likely pathogenic by GeneDx

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000369.5(TSHR):c.394G>C (p.Gly132Arg) rs760874290 0.00004
NM_000369.5(TSHR):c.1789G>A (p.Val597Ile) rs762013134 0.00001
NM_000369.5(TSHR):c.545+3G>C rs786205080 0.00001
NM_000369.5(TSHR):c.1462T>C (p.Trp488Arg) rs2140111252
NM_000369.5(TSHR):c.1514G>A (p.Ser505Asn) rs121908876
NM_000369.5(TSHR):c.1516G>T (p.Glu506Ter) rs762048531
NM_000369.5(TSHR):c.2009A>G (p.Asn670Ser)
NM_000369.5(TSHR):c.2115_2116delinsTCAGGA (p.Tyr706fs)
NM_000369.5(TSHR):c.267_270delinsTCCT (p.Gln90Pro) rs1064794318
NM_000369.5(TSHR):c.418del (p.Met140fs) rs1085307573
NM_000369.5(TSHR):c.879_880del (p.Gly294fs) rs746213369

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