ClinVar Miner

List of variants reported as pathogenic for hereditary hypophosphatemic rickets by OMIM

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001177316.2(SLC34A3):c.756G>A (p.Gln252=) rs121918239 0.00149
NM_001177316.2(SLC34A3):c.586G>A (p.Gly196Arg) rs121918237 0.00007
NM_001177316.2(SLC34A3):c.846G>A (p.Pro282=) rs121918236 0.00004
NM_004407.4(DMP1):c.55-1G>C rs587776697 0.00002
NM_020638.3(FGF23):c.527G>A (p.Arg176Gln) rs104894347 0.00001
NM_000444.4(PHEX):c.[755T>C;759G>A]
NM_000444.6(PHEX):c.119-1G>A rs2146979490
NM_000444.6(PHEX):c.119-1G>C rs2146979490
NM_000444.6(PHEX):c.1664T>C (p.Leu555Pro) rs137853270
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter) rs137853271
NM_000444.6(PHEX):c.1701A>C (p.Arg567=)
NM_000444.6(PHEX):c.254G>A (p.Cys85Tyr) rs137853269
NM_000444.6(PHEX):c.436+6T>C rs1556020485
NM_000444.6(PHEX):c.682_683del (p.Ser228fs) rs1064793956
NM_000444.6(PHEX):c.830T>A (p.Leu277Ter) rs137853268
NM_000444.6(PHEX):c.849+1268G>T rs919011936
NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu) rs151340626
NM_001177316.2(SLC34A3):c.1058G>T (p.Arg353Leu) rs121918234
NM_001177316.2(SLC34A3):c.1093+41_1094-15del rs1554784508
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.228del (p.Cys77fs) rs794729659
NM_001177316.2(SLC34A3):c.908del (p.Pro303fs) rs794729658
NM_001177316.2(SLC34A3):c.925+20_926-48del rs1554784044
NM_004407.4(DMP1):c.1485_1491del (p.Tyr496fs) rs587776698
NM_004407.4(DMP1):c.1A>G (p.Met1Val) rs104893834
NM_004407.4(DMP1):c.362del (p.Pro121fs) rs587776696
NM_006208.3(ENPP1):c.2248dup (p.Ser750fs) rs587776797
NM_006208.3(ENPP1):c.2444+702_*868del
NM_006208.3(ENPP1):c.2702A>C (p.Tyr901Ser) rs121908249
NM_006208.3(ENPP1):c.797G>T (p.Gly266Val) rs121908248
NM_020638.3(FGF23):c.535C>T (p.Arg179Trp) rs28937882
PHEX, A-G, NT-429

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