ClinVar Miner

List of variants reported as pathogenic for vitamin D-dependent rickets

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_024514.5(CYP2R1):c.296T>C (p.Leu99Pro) rs61495246 0.00107
NM_000376.3(VDR):c.217C>T (p.Arg73Ter) rs980041568 0.00004
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_000376.3(VDR):c.149G>A (p.Arg50Gln) rs121909794 0.00002
NM_000785.4(CYP27B1):c.1165C>T (p.Arg389Cys) rs118204010 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.1357C>T (p.Arg453Cys) rs767480544 0.00001
NM_000785.4(CYP27B1):c.196-2A>G rs772960103 0.00001
NM_000785.4(CYP27B1):c.589+1G>A rs761780097 0.00001
NC_000012.11:g.(?_58156116)_(58160862_?)del
NM_000376.3(VDR):c.1036G>A (p.Val346Met) rs267607169
NM_000376.3(VDR):c.1171C>A (p.Arg391Ser) rs121909800
NM_000376.3(VDR):c.1171C>T (p.Arg391Cys) rs121909800
NM_000376.3(VDR):c.1172G>A (p.Arg391His)
NM_000376.3(VDR):c.1190A>C (p.His397Pro) rs886037890
NM_000376.3(VDR):c.137G>A (p.Gly46Asp) rs121909797
NM_000376.3(VDR):c.148C>T (p.Arg50Ter) rs201106427
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>A (p.Arg274His) rs121909796
NM_000376.3(VDR):c.821G>T (p.Arg274Leu) rs121909796
NM_000376.3(VDR):c.856T>C (p.Trp286Arg)
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_000785.3(CYP27B1):c.[1319_1325dupCCCACCC];[1358G>A]
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.1286G>C (p.Arg429Pro) rs568165874
NM_000785.4(CYP27B1):c.1294C>T (p.Arg432Cys)
NM_000785.4(CYP27B1):c.1319_1325dup (p.Phe443fs) rs780950819
NM_000785.4(CYP27B1):c.1376G>T (p.Arg459Leu)
NM_000785.4(CYP27B1):c.171dup (p.Leu58fs) rs763437121
NM_000785.4(CYP27B1):c.201_204delinsCTTCG (p.Gln67fs) rs2140397731
NM_000785.4(CYP27B1):c.252_262del (p.Thr85fs) rs2140397692
NM_000785.4(CYP27B1):c.305G>A (p.Gly102Glu) rs1057520815
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.403C>T (p.Gln135Ter) rs2140397262
NM_000785.4(CYP27B1):c.48_60del (p.Glu20fs)
NM_000785.4(CYP27B1):c.497_500del (p.Val166fs) rs2140397164
NM_000785.4(CYP27B1):c.566A>G (p.Glu189Gly) rs118204012
NM_000785.4(CYP27B1):c.57_69del (p.Glu20fs)
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_002769.5(PRSS1):c.86A>T (p.Asn29Ile) rs111033566
NM_017460.6(CYP3A4):c.902T>C (p.Ile301Thr) rs1815413655
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

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