List of variants reported as pathogenic for congenital hypothyroidism by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)	rs80338848	0.00035
NM_000441.2(SLC26A4):c.-3-2A>G	rs397516411	0.00027
NM_000441.2(SLC26A4):c.919-2A>G	rs111033313	0.00018
NM_001206744.2(TPO):c.1978C>G (p.Gln660Glu)	rs121908088	0.00016
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp)	rs111033307	0.00008
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)	rs121908362	0.00004
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser)	rs1060499808	0.00001
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs)	rs786204450
NM_000441.2(SLC26A4):c.1829C>A (p.Ser610Ter)	rs1562839439
NM_000441.2(SLC26A4):c.664G>A (p.Gly222Ser)
NM_207581.4(DUOXA2):c.298del (p.Arg100fs)

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