ClinVar Miner

List of variants reported as pathogenic for rickets by OMIM

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_001177316.2(SLC34A3):c.756G>A (p.Gln252=) rs121918239 0.00149
NM_024514.5(CYP2R1):c.296T>C (p.Leu99Pro) rs61495246 0.00107
NM_001177316.2(SLC34A3):c.586G>A (p.Gly196Arg) rs121918237 0.00007
NM_000376.3(VDR):c.218G>A (p.Arg73Gln) rs121909791 0.00004
NM_000785.4(CYP27B1):c.1166G>A (p.Arg389His) rs118204009 0.00004
NM_000785.4(CYP27B1):c.1226C>T (p.Thr409Ile) rs118204008 0.00004
NM_000785.4(CYP27B1):c.262del (p.Val88fs) rs387906260 0.00004
NM_001177316.2(SLC34A3):c.846G>A (p.Pro282=) rs121918236 0.00004
NM_000376.3(VDR):c.149G>A (p.Arg50Gln) rs121909794 0.00002
NM_004407.4(DMP1):c.55-1G>C rs587776697 0.00002
NM_000376.3(VDR):c.88C>T (p.Arg30Ter) rs121909801 0.00001
NM_000376.3(VDR):c.941T>G (p.Ile314Ser) rs121909799 0.00001
NM_000785.4(CYP27B1):c.589+1G>A rs761780097 0.00001
NM_020638.3(FGF23):c.527G>A (p.Arg176Gln) rs104894347 0.00001
NM_000376.3(VDR):c.1036G>A (p.Val346Met) rs267607169
NM_000376.3(VDR):c.1171C>T (p.Arg391Cys) rs121909800
NM_000376.3(VDR):c.137G>A (p.Gly46Asp) rs121909797
NM_000376.3(VDR):c.239G>A (p.Arg80Gln) rs121909793
NM_000376.3(VDR):c.366del (p.Lys123fs) rs1592107753
NM_000376.3(VDR):c.454C>T (p.Gln152Ter) rs121909795
NM_000376.3(VDR):c.821G>T (p.Arg274Leu) rs121909796
NM_000376.3(VDR):c.885C>A (p.Tyr295Ter) rs121909792
NM_000376.3(VDR):c.915C>G (p.His305Gln) rs121909798
NM_000376.3(VDR):c.985G>A (p.Glu329Lys) rs121909802
NM_000376.3(VDR):c.98G>A (p.Gly33Asp) rs121909790
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_000785.4(CYP27B1):c.1004G>C (p.Arg335Pro) rs28934606
NM_000785.4(CYP27B1):c.1027C>T (p.Leu343Phe) rs118204011
NM_000785.4(CYP27B1):c.1144C>T (p.Pro382Ser) rs28934607
NM_000785.4(CYP27B1):c.1165C>G (p.Arg389Gly) rs118204010
NM_000785.4(CYP27B1):c.1319_1325dup (p.Phe443fs) rs780950819
NM_000785.4(CYP27B1):c.201_204delinsCTTCG (p.Gln67fs) rs2140397731
NM_000785.4(CYP27B1):c.320G>A (p.Arg107His) rs28934604
NM_000785.4(CYP27B1):c.374G>A (p.Gly125Glu) rs28934605
NM_000785.4(CYP27B1):c.386+1G>A rs770204470
NM_000785.4(CYP27B1):c.566A>G (p.Glu189Gly) rs118204012
NM_000785.4(CYP27B1):c.631del (p.Glu211fs) rs387906258
NM_000785.4(CYP27B1):c.693del (p.Thr232fs) rs387906259
NM_000785.4(CYP27B1):c.962C>G (p.Thr321Arg) rs118204007
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_017460.6(CYP3A4):c.902T>C (p.Ile301Thr) rs1815413655
NM_020638.3(FGF23):c.535C>T (p.Arg179Trp) rs28937882
NM_024514.5(CYP2R1):c.124_137delinsCG (p.Gly42_Leu46delinsArg) rs1848879955
NM_024514.5(CYP2R1):c.367+1G>A rs202011621
NM_024514.5(CYP2R1):c.768dup (p.Leu257fs) rs1422405747
PHEX, A-G, NT-429

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