List of variants reported as likely pathogenic for hereditary hypophosphatemic rickets with hypercalciuria by MGZ Medical Genetics Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu)	rs199690076	0.00059
NM_001177316.2(SLC34A3):c.1304del (p.Ser435fs)	rs771816857	0.00021
NM_001177316.2(SLC34A3):c.1248_1249del (p.Leu417fs)	rs757714479

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