List of variants in gene VDR studied for abnormal mineralization disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 178

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HGVS	dbSNP	gnomAD frequency
NM_000376.3(VDR):c.*1979C>G	rs2544043	0.95138
NM_000376.3(VDR):c.2T>C (p.Met1Thr)	rs2228570	0.66221
NM_000376.3(VDR):c.*2143A>T	rs2853562	0.57087
NM_000376.3(VDR):c.1025-49G>T	rs7975232	0.55284
NM_000376.3(VDR):c.*308C>A	rs739837	0.53268
NM_000376.3(VDR):c.1056T>C (p.Ile352=)	rs731236	0.33962
NM_000376.3(VDR):c.*461G>T	rs3847987	0.12128
NM_000376.3(VDR):c.*2791G>A	rs2853563	0.08064
NM_000376.3(VDR):c.146+8C>T	rs10783218	0.07673
NM_000376.3(VDR):c.*437C>G	rs11574119	0.03464
NM_000376.3(VDR):c.57C>T (p.Asn19=)	rs2228572	0.03209
NM_000376.3(VDR):c.*562A>C	rs3858733	0.03190
NM_000376.3(VDR):c.*2974A>T	rs11574139	0.03175
NM_000376.3(VDR):c.*1281G>A	rs7967673	0.02377
NM_000376.3(VDR):c.*1242A>G	rs7954412	0.02375
NM_000376.3(VDR):c.*2827A>G	rs11574138	0.02365
NM_000376.3(VDR):c.*408T>C	rs112308011	0.01929
NM_000376.3(VDR):c.*1226T>C	rs11574129	0.01576
NM_000376.3(VDR):c.*2593A>G	rs11168263	0.01497
NM_000376.3(VDR):c.*409G>A	rs11574118	0.01495
NM_000376.3(VDR):c.*1503G>A	rs115591719	0.01430
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.48T>C (p.Phe16=)	rs11832059	0.00770
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.444C>T (p.Ser148=)	rs2229828	0.00638
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.-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.1206C>A (p.Arg402=)	rs2229829	0.00014
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.162G>A (p.Arg54=)	rs774173372	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.217C>T (p.Arg73Ter)	rs980041568	0.00004
NM_000376.3(VDR):c.218G>A (p.Arg73Gln)	rs121909791	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.219A>G (p.Arg73=)	rs369091846	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.897C>T (p.Asp299=)	rs746128447	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.149G>A (p.Arg50Gln)	rs121909794	0.00002
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.-45A>G	rs752414831	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.803T>C (p.Ile268Thr)	rs1164008328	0.00001
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_000376.3(VDR):c.972C>T (p.Asn324=)	rs754559635	0.00001
NM_000376.3(VDR):c.*111C>A	rs886049435
NM_000376.3(VDR):c.*1505G>A	rs1036167478
NM_000376.3(VDR):c.*1906C>A	rs9729
NM_000376.3(VDR):c.*1906C>G	rs9729
NM_000376.3(VDR):c.*2034A>T	rs886049424
NM_000376.3(VDR):c.*2102C>A	rs371312471
NM_000376.3(VDR):c.*2226C>T	rs11574136
NM_000376.3(VDR):c.*2359C>A	rs886049416
NM_000376.3(VDR):c.*2529G>A	rs771839812
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.*97G>A	rs548542386
NM_000376.3(VDR):c.-2-1G>A
NM_000376.3(VDR):c.-84+5022C>A	rs11168293
NM_000376.3(VDR):c.-84+5083G>T	rs527937423
NM_000376.3(VDR):c.-84+5133G>C	rs11168292
NM_000376.3(VDR):c.-84+5133G>T	rs11168292
NM_000376.3(VDR):c.1027C>T (p.Arg343Cys)	rs1057521095
NM_000376.3(VDR):c.1036G>A (p.Val346Met)	rs267607169
NM_000376.3(VDR):c.1103G>T (p.Arg368Leu)	rs376903517
NM_000376.3(VDR):c.1104_1105inv (p.Cys369Gly)
NM_000376.3(VDR):c.1121C>G (p.Pro374Arg)	rs200556498
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.1204C>T (p.Arg402Cys)
NM_000376.3(VDR):c.1229G>T (p.Cys410Phe)	rs1945243453
NM_000376.3(VDR):c.137G>A (p.Gly46Asp)	rs121909797
NM_000376.3(VDR):c.146+1G>T
NM_000376.3(VDR):c.148C>T (p.Arg50Ter)	rs201106427
NM_000376.3(VDR):c.220C>A (p.Arg74Ser)
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.2T>G (p.Met1Arg)	rs2228570
NM_000376.3(VDR):c.366del (p.Lys123fs)	rs1592107753
NM_000376.3(VDR):c.446A>G (p.Asp149Gly)
NM_000376.3(VDR):c.454C>T (p.Gln152Ter)	rs121909795
NM_000376.3(VDR):c.565C>A (p.His189Asn)	rs778063507
NM_000376.3(VDR):c.670C>T (p.Leu224Phe)
NM_000376.3(VDR):c.702C>A (p.Val234=)
NM_000376.3(VDR):c.820C>T (p.Arg274Cys)	rs757881350
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.86A>G (p.Asp29Gly)	rs1280836121
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.945G>T (p.Lys315Asn)	rs886049437
NM_000376.3(VDR):c.967C>G (p.Leu323Val)
NM_000376.3(VDR):c.985G>A (p.Glu329Lys)	rs121909802
NM_000376.3(VDR):c.985G>C (p.Glu329Gln)
NM_000376.3(VDR):c.98G>A (p.Gly33Asp)	rs121909790

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