ClinVar Miner

List of variants in gene VDR reported as uncertain significance for bone remodeling disease

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 132
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HGVS dbSNP gnomAD frequency
NM_000376.3(VDR):c.*1865G>A rs11540149 0.01124
NM_000376.3(VDR):c.*1420T>C rs56382517 0.01021
NM_000376.3(VDR):c.*222G>C rs11574117 0.00758
NM_000376.3(VDR):c.*748T>G rs11574124 0.00684
NM_000376.3(VDR):c.*1992C>T rs142851923 0.00673
NM_000376.3(VDR):c.-84+5034C>T rs113046660 0.00573
NM_000376.3(VDR):c.*184T>G rs11574116 0.00517
NM_000376.3(VDR):c.*2023G>A rs11574135 0.00453
NM_000376.3(VDR):c.*1477C>T rs11574132 0.00409
NM_000376.3(VDR):c.*2127C>T rs973050505 0.00253
NM_000376.3(VDR):c.933G>A (p.Glu311=) rs150775215 0.00217
NM_000376.3(VDR):c.909C>T (p.Ala303=) rs12721365 0.00195
NM_000376.3(VDR):c.*843C>T rs576342182 0.00188
NM_000376.3(VDR):c.908-14A>G rs11574107 0.00170
NM_000376.3(VDR):c.1085C>T (p.Thr362Ile) rs11574115 0.00159
NM_000376.3(VDR):c.*601C>T rs11574121 0.00155
NM_000376.3(VDR):c.*2446G>A rs146017596 0.00150
NM_000376.3(VDR):c.*1666A>C rs11574134 0.00145
NM_000376.3(VDR):c.1048G>A (p.Ala350Thr) rs148856375 0.00109
NM_000376.3(VDR):c.1073G>A (p.Arg358His) rs114678556 0.00106
NM_000376.3(VDR):c.*2832C>T rs73109835 0.00097
NM_000376.3(VDR):c.*1319C>T rs11574131 0.00083
NM_000376.3(VDR):c.*2973G>A rs760268626 0.00048
NM_000376.3(VDR):c.*2227G>A rs138753910 0.00046
NM_000376.3(VDR):c.-84+5000T>C rs752094022 0.00045
NM_000376.3(VDR):c.52C>T (p.Arg18Trp) rs147496897 0.00038
NM_000376.3(VDR):c.1016T>C (p.Val339Ala) rs187843998 0.00035
NM_000376.3(VDR):c.146+9dup rs748166237 0.00024
NM_000376.3(VDR):c.-84+5072C>T rs144982071 0.00021
NM_000376.3(VDR):c.362G>A (p.Arg121Gln) rs200765991 0.00021
NM_000376.3(VDR):c.*877C>G rs556844112 0.00019
NM_000376.3(VDR):c.*967C>A rs775657996 0.00018
NM_000376.3(VDR):c.*487C>T rs187706787 0.00016
NM_000376.3(VDR):c.889G>A (p.Val297Ile) rs144756403 0.00014
NM_000376.3(VDR):c.*1482G>C rs546483718 0.00013
NM_000376.3(VDR):c.*882C>A rs546175308 0.00013
NM_000376.3(VDR):c.429C>T (p.Tyr143=) rs140864473 0.00013
NM_000376.3(VDR):c.*2545G>T rs765177595 0.00011
NM_000376.3(VDR):c.*2047G>A rs767636971 0.00010
NM_000376.3(VDR):c.*2328C>G rs770829205 0.00010
NM_000376.3(VDR):c.1098C>T (p.Tyr366=) rs34189316 0.00010
NM_000376.3(VDR):c.*2456C>T rs11574137 0.00009
NM_000376.3(VDR):c.*2491A>C rs137869743 0.00009
NM_000376.3(VDR):c.156G>T (p.Met52Ile) rs200041268 0.00009
NM_000376.3(VDR):c.64C>T (p.Arg22Trp) rs199929033 0.00009
NM_000376.3(VDR):c.*773T>G rs550578263 0.00008
NM_000376.3(VDR):c.1095G>A (p.Thr365=) rs578013785 0.00006
NM_000376.3(VDR):c.89G>A (p.Arg30Gln) rs373875011 0.00006
NM_000376.3(VDR):c.*2413G>C rs886049414 0.00005
NM_000376.3(VDR):c.1131C>T (p.His377=) rs201868713 0.00005
NM_000376.3(VDR):c.1152C>A (p.Ile384=) rs753086299 0.00005
NM_000376.3(VDR):c.199C>T (p.Arg67Cys) rs369248365 0.00005
NM_000376.3(VDR):c.*2296T>C rs868657217 0.00004
NM_000376.3(VDR):c.*2464C>G rs959744860 0.00004
NM_000376.3(VDR):c.14C>T (p.Ala5Val) rs368441608 0.00004
NM_000376.3(VDR):c.259A>G (p.Ile87Val) rs387907555 0.00004
NM_000376.3(VDR):c.*1191G>A rs746110425 0.00003
NM_000376.3(VDR):c.*2309C>T rs186045639 0.00003
NM_000376.3(VDR):c.146+5G>A rs756376013 0.00003
NM_000376.3(VDR):c.361C>T (p.Arg121Trp) rs752590757 0.00003
NM_000376.3(VDR):c.519A>T (p.Arg173Ser) rs199620286 0.00003
NM_000376.3(VDR):c.65G>A (p.Arg22Gln) rs201676749 0.00003
NM_000376.3(VDR):c.781G>A (p.Val261Ile) rs746214307 0.00003
NM_000376.3(VDR):c.*71G>A rs527310161 0.00002
NM_000376.3(VDR):c.1045G>A (p.Ala349Thr) rs774910763 0.00002
NM_000376.3(VDR):c.1134G>T (p.Leu378=) rs199583004 0.00002
NM_000376.3(VDR):c.*1178A>C rs886049428 0.00001
NM_000376.3(VDR):c.*1437G>C rs752109177 0.00001
NM_000376.3(VDR):c.*1805A>T rs886049426 0.00001
NM_000376.3(VDR):c.*1982C>T rs886049425 0.00001
NM_000376.3(VDR):c.*2168G>C rs886049418 0.00001
NM_000376.3(VDR):c.*2263G>A rs886049417 0.00001
NM_000376.3(VDR):c.*2900A>C rs527373238 0.00001
NM_000376.3(VDR):c.*298C>T rs886049434 0.00001
NM_000376.3(VDR):c.*405G>T rs886049432 0.00001
NM_000376.3(VDR):c.*415C>T rs1238324914 0.00001
NM_000376.3(VDR):c.*51G>A rs539180933 0.00001
NM_000376.3(VDR):c.*534T>C rs886049431 0.00001
NM_000376.3(VDR):c.-12G>C rs886049438 0.00001
NM_000376.3(VDR):c.-84+5056C>T rs886049439 0.00001
NM_000376.3(VDR):c.110A>G (p.Asn37Ser) rs370473254 0.00001
NM_000376.3(VDR):c.1183G>C (p.Glu395Gln) rs1472591641 0.00001
NM_000376.3(VDR):c.221G>A (p.Arg74His) rs1000899385 0.00001
NM_000376.3(VDR):c.257A>G (p.Asp86Gly) rs534768058 0.00001
NM_000376.3(VDR):c.274G>A (p.Glu92Lys) rs1211812683 0.00001
NM_000376.3(VDR):c.311G>A (p.Arg104Gln) rs749763626 0.00001
NM_000376.3(VDR):c.460C>T (p.Arg154Trp) rs746619116 0.00001
NM_000376.3(VDR):c.755+13T>C rs768024598 0.00001
NM_000376.3(VDR):c.88C>T (p.Arg30Ter) rs121909801 0.00001
NM_000376.3(VDR):c.972C>T (p.Asn324=) rs754559635 0.00001
NM_000376.3(VDR):c.*111C>A rs886049435
NM_000376.3(VDR):c.*1179del rs530894692
NM_000376.3(VDR):c.*1235CCAGC[4] rs11574130
NM_000376.3(VDR):c.*1253T>A rs886049427
NM_000376.3(VDR):c.*1505G>A rs1036167478
NM_000376.3(VDR):c.*1906C>G rs9729
NM_000376.3(VDR):c.*2034A>T rs886049424
NM_000376.3(VDR):c.*2100_*2105del rs886049422
NM_000376.3(VDR):c.*2102C>A rs371312471
NM_000376.3(VDR):c.*2102del rs886049423
NM_000376.3(VDR):c.*2118_*2122del rs17878969
NM_000376.3(VDR):c.*2122dup rs17878969
NM_000376.3(VDR):c.*2124dup rs886049419
NM_000376.3(VDR):c.*2226C>T rs11574136
NM_000376.3(VDR):c.*2359C>A rs886049416
NM_000376.3(VDR):c.*2391C>G rs886049415
NM_000376.3(VDR):c.*2529G>A rs771839812
NM_000376.3(VDR):c.*2658dup rs886049413
NM_000376.3(VDR):c.*2878A>G rs886049412
NM_000376.3(VDR):c.*387C>G rs886049433
NM_000376.3(VDR):c.*404C>T rs547101168
NM_000376.3(VDR):c.*623A>G rs1945224092
NM_000376.3(VDR):c.*70C>T rs886049436
NM_000376.3(VDR):c.*827C>T rs886049430
NM_000376.3(VDR):c.*948GAG[1] rs886049429
NM_000376.3(VDR):c.*97G>A rs548542386
NM_000376.3(VDR):c.-84+5083G>T rs527937423
NM_000376.3(VDR):c.-84+5133G>T rs11168292
NM_000376.3(VDR):c.1103G>T (p.Arg368Leu) rs376903517
NM_000376.3(VDR):c.1121C>G (p.Pro374Arg) rs200556498
NM_000376.3(VDR):c.1204C>T (p.Arg402Cys)
NM_000376.3(VDR):c.1229G>T (p.Cys410Phe) rs1945243453
NM_000376.3(VDR):c.227G>T (p.Cys76Phe) rs1565618291
NM_000376.3(VDR):c.239G>A (p.Arg80Gln) rs121909793
NM_000376.3(VDR):c.278-5C>T rs551270527
NM_000376.3(VDR):c.446A>G (p.Asp149Gly)
NM_000376.3(VDR):c.565C>A (p.His189Asn) rs778063507
NM_000376.3(VDR):c.702C>A (p.Val234=)
NM_000376.3(VDR):c.86A>G (p.Asp29Gly) rs1280836121
NM_000376.3(VDR):c.945G>T (p.Lys315Asn) rs886049437
NM_000376.3(VDR):c.967C>G (p.Leu323Val)
NM_000376.3(VDR):c.985G>C (p.Glu329Gln)

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