List of variants reported as pathogenic for Hypoparathyroidism, deafness, renal disease syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001002295.2(GATA3):c.1099C>T (p.Arg367Ter)	rs104894164
NM_001002295.2(GATA3):c.431dup (p.His145fs)	rs1588377948
NM_001002295.2(GATA3):c.790T>A (p.Cys264Ser)	rs767074039
NM_001002295.2(GATA3):c.896G>T (p.Arg299Leu)	rs2131501118
NM_001002295.2(GATA3):c.924+1G>A
NM_001002295.2(GATA3):c.961T>A (p.Cys321Ser)	rs1832898282

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