List of variants in gene TSHR reported as benign for congenital hypothyroidism

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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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.*1152T>A	rs2288494	0.85456
NM_000369.5(TSHR):c.*245C>T	rs7144481	0.85116
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.*1417T>C	rs2288496	0.39155
NM_000369.5(TSHR):c.*1222G>C	rs2288495	0.39107
NM_000369.5(TSHR):c.*431T>C	rs17630128	0.26762
NM_000369.5(TSHR):c.561T>C (p.Asn187=)	rs2075179	0.26593
NM_000369.5(TSHR):c.545+13A>G	rs2241119	0.26331
NM_000369.5(TSHR):c.*172C>A	rs2268477	0.16427
NM_000369.5(TSHR):c.*909C>T	rs2288493	0.15203
NM_000369.5(TSHR):c.692+49T>C	rs28636074	0.01441
NM_000369.5(TSHR):c.692+48T>A	rs28516678

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