ClinVar Miner

List of variants in gene TSHR reported by OMIM

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Total variants: 30
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HGVS dbSNP gnomAD frequency
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.1170T>G (p.Cys390Trp) rs121908871 0.00001
NM_000369.5(TSHR):c.326G>A (p.Arg109Gln) rs121908865 0.00001
NM_000369.5(TSHR):c.545+3G>C rs786205080 0.00001
NM_000369.5(TSHR):c.928C>T (p.Arg310Cys) rs121908882 0.00001
NM_000369.5(TSHR):c.1217_1234delinsCACG (p.Asn406fs) rs2140110277
NM_000369.5(TSHR):c.1228G>A (p.Asp410Asn) rs121908868
NM_000369.5(TSHR):c.1291G>A (p.Gly431Ser) rs121908883
NM_000369.5(TSHR):c.1358T>C (p.Met453Thr) rs121908864
NM_000369.5(TSHR):c.1400T>C (p.Leu467Pro) rs121908885
NM_000369.5(TSHR):c.1430C>T (p.Thr477Ile) rs121908881
NM_000369.5(TSHR):c.1514G>A (p.Ser505Asn) rs121908876
NM_000369.5(TSHR):c.1526T>C (p.Val509Ala) rs121908874
NM_000369.5(TSHR):c.1575C>A (p.Phe525Leu) rs121908870
NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr) rs121908872
NM_000369.5(TSHR):c.1798T>C (p.Cys600Arg) rs121908884
NM_000369.5(TSHR):c.1856A>G (p.Asp619Gly) rs121908859
NM_000369.5(TSHR):c.1867_1868delinsAT (p.Ala623Ile) rs121908860
NM_000369.5(TSHR):c.1887G>T (p.Leu629Phe) rs121908877
NM_000369.5(TSHR):c.1891T>C (p.Phe631Leu) rs121908861
NM_000369.5(TSHR):c.1897G>C (p.Asp633His) rs28937584
NM_000369.5(TSHR):c.1915C>T (p.Pro639Ser) rs121908880
NM_000369.5(TSHR):c.1963_1964del (p.Thr655fs) rs761918916
NM_000369.5(TSHR):c.2015G>A (p.Cys672Tyr) rs121908875
NM_000369.5(TSHR):c.500T>A (p.Ile167Asn) rs121908862
NM_000369.5(TSHR):c.548A>G (p.Lys183Arg) rs121908879
NM_000369.5(TSHR):c.842G>A (p.Ser281Asn) rs121908873
NM_000369.5(TSHR):c.842G>T (p.Ser281Ile) rs121908873
NM_000369.5(TSHR):c.970C>T (p.Gln324Ter) rs121908867

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