ClinVar Miner

List of variants in gene TSHR studied for pregnancy disorder

Included ClinVar conditions (57):
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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000369.5(TSHR):c.2181G>C (p.Glu727Asp) rs1991517 0.90865
NM_000369.5(TSHR):c.692+163A>G rs3783942 0.63598
NM_000369.5(TSHR):c.692+209C>A rs3783941 0.62312
NM_000369.5(TSHR):c.692+49T>C rs28636074 0.01441
NM_000369.5(TSHR):c.1349G>A (p.Arg450His) rs189261858 0.00023
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser) rs142063461 0.00022
NM_000369.5(TSHR):c.1637G>A (p.Trp546Ter) rs121908866 0.00021
NM_000369.5(TSHR):c.484C>G (p.Pro162Ala) rs121908863 0.00010
NM_000369.5(TSHR):c.1556G>A (p.Arg519His) rs780018604 0.00004
NM_000369.5(TSHR):c.394G>C (p.Gly132Arg) rs760874290 0.00004
NM_000369.5(TSHR):c.1170T>G (p.Cys390Trp) rs121908871 0.00001
NM_000369.5(TSHR):c.326G>A (p.Arg109Gln) rs121908865 0.00001
NM_000369.5(TSHR):c.1192T>G (p.Cys398Gly)
NM_000369.5(TSHR):c.1225G>T (p.Glu409Ter)
NM_000369.5(TSHR):c.1465C>T (p.Gln489Ter)
NM_000369.5(TSHR):c.1515C>A (p.Ser505Arg)
NM_000369.5(TSHR):c.1582C>A (p.Arg528Ser)
NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr) rs121908872
NM_000369.5(TSHR):c.1918A>G (p.Ile640Val)
NM_000369.5(TSHR):c.1963_1964del (p.Thr655fs) rs761918916
NM_000369.5(TSHR):c.2066T>G (p.Val689Gly)
NM_000369.5(TSHR):c.2282A>C (p.Gln761Pro) rs1891848268
NM_000369.5(TSHR):c.267_270delinsTCCT (p.Gln90Pro) rs1064794318
NM_000369.5(TSHR):c.418del (p.Met140fs) rs1085307573
NM_000369.5(TSHR):c.480C>A (p.Asp160Glu)
NM_000369.5(TSHR):c.485C>T (p.Pro162Leu)
NM_000369.5(TSHR):c.548A>G (p.Lys183Arg) rs121908879
NM_000369.5(TSHR):c.692+48T>A rs28516678
NM_000369.5(TSHR):c.801_810del (p.Leu267fs)
NM_000369.5(TSHR):c.881+1G>T

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