List of variants reported as likely pathogenic for congenital hypothyroidism by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_207581.4(DUOXA2):c.205+2T>C	rs201506037	0.00029
NM_000369.5(TSHR):c.484C>G (p.Pro162Ala)	rs121908863	0.00010
NM_000441.2(SLC26A4):c.1589A>C (p.Tyr530Ser)	rs747636919	0.00003
NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile)	rs786204426	0.00001
NM_001363711.2(DUOX2):c.2335-1G>C	rs758001307	0.00001
NC_000002.11:g.(1418275_1426816)_(1520755_1544365)dup
NM_000369.5(TSHR):c.1582C>T (p.Arg528Cys)
NM_000441.2(SLC26A4):c.1001+4A>G	rs1262298247
NM_000441.2(SLC26A4):c.1231G>A (p.Ala411Thr)
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg)	rs201660407
NM_000441.2(SLC26A4):c.1264-1G>C	rs111033311
NM_000441.2(SLC26A4):c.1271G>A (p.Gly424Asp)	rs1791675770
NM_000441.2(SLC26A4):c.367C>T (p.Pro123Ser)	rs984967571
NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val)	rs756272252
NM_000441.2(SLC26A4):c.765+3A>T	rs483353048
NM_001206744.2(TPO):c.1009G>A (p.Glu337Lys)
NM_001363711.2(DUOX2):c.345_352del (p.Asp115fs)	rs1566978577

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