ClinVar Miner

List of variants studied for hereditary hypophosphatemic rickets with hypercalciuria by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

Included ClinVar conditions (1):
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Total variants: 12
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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.304+2T>C rs201293634 0.00004
NM_001177316.2(SLC34A3):c.846G>A (p.Pro282=) rs121918236 0.00004
NM_001177316.2(SLC34A3):c.448+5G>A rs768893184 0.00001
NM_001177316.2(SLC34A3):c.1058G>T (p.Arg353Leu) rs121918234
NM_001177316.2(SLC34A3):c.1238C>A (p.Ala413Glu) rs121918235
NM_001177316.2(SLC34A3):c.1402C>T (p.Arg468Trp) rs121918238
NM_001177316.2(SLC34A3):c.1561dup (p.Leu521fs) rs765816079
NM_001177316.2(SLC34A3):c.1639_1652del (p.Arg547fs) rs1554785389
NM_001177316.2(SLC34A3):c.575C>G (p.Ser192Trp) rs199690076
NM_001177316.2(SLC34A3):c.908del (p.Pro303fs) rs794729658
NM_001177316.2(SLC34A3):c.925+20_926-48del rs1554784044

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