ClinVar Miner

List of variants studied for rickets by Illumina Laboratory Services, Illumina

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 508
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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_004407.4(DMP1):c.*607A>G rs2627725 0.61047
NM_006208.3(ENPP1):c.*1972G>C rs1931006 0.57374
NM_000376.3(VDR):c.*2143A>T rs2853562 0.57087
NM_000376.3(VDR):c.*308C>A rs739837 0.53268
NM_000444.6(PHEX):c.-90A>G rs178710 0.51407
NM_006208.3(ENPP1):c.*3724C>T rs2327154 0.46998
NM_006208.3(ENPP1):c.*1043A>G rs7754561 0.44199
NM_006208.3(ENPP1):c.*1157C>T rs7754859 0.44164
NM_000376.3(VDR):c.1056T>C (p.Ile352=) rs731236 0.33962
NM_000444.6(PHEX):c.1769-10C>T rs3752433 0.33899
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) rs1044498 0.32168
NM_004407.4(DMP1):c.205A>T (p.Ser69Cys) rs10019009 0.29735
NM_006208.3(ENPP1):c.*1091A>C rs7754586 0.28727
NM_004407.4(DMP1):c.1230G>A (p.Glu410=) rs2615497 0.28028
NM_004407.4(DMP1):c.*35G>A rs2627724 0.27831
NM_020638.3(FGF23):c.*1429A>T rs11063112 0.22976
NM_006208.3(ENPP1):c.*1539A>G rs9493121 0.16942
NM_006208.3(ENPP1):c.*3837T>C rs55725924 0.16400
NM_006208.3(ENPP1):c.*3511T>C rs9483350 0.16375
NM_004407.4(DMP1):c.1218C>T (p.Ser406=) rs2615498 0.15334
NM_000444.6(PHEX):c.-33C>T rs5951494 0.13118
NM_006208.3(ENPP1):c.*1350G>A rs9493120 0.12565
NM_006208.3(ENPP1):c.*563G>A rs1044586 0.12391
NM_006208.3(ENPP1):c.*1101G>T rs11154647 0.12369
NM_006208.3(ENPP1):c.*1137T>C rs11154648 0.12356
NM_006208.3(ENPP1):c.*777C>T rs34836463 0.12355
NM_006208.3(ENPP1):c.*457T>A rs1044582 0.12353
NM_006208.3(ENPP1):c.*699T>A rs34142005 0.12323
NM_006208.3(ENPP1):c.*112G>A rs1044548 0.12306
NM_000376.3(VDR):c.*461G>T rs3847987 0.12128
NM_020638.3(FGF23):c.716C>T (p.Thr239Met) rs7955866 0.11385
NM_006208.3(ENPP1):c.*163C>T rs1044558 0.10959
NM_006208.3(ENPP1):c.*389G>A rs553 0.10942
NM_006208.3(ENPP1):c.*1240T>C rs758925757 0.10712
NM_006208.3(ENPP1):c.*3271C>G rs1510 0.09857
NM_000444.6(PHEX):c.1966-11T>C rs12014792 0.09259
NM_006208.3(ENPP1):c.*4636C>T rs11963615 0.08655
NM_000376.3(VDR):c.*2791G>A rs2853563 0.08064
NM_000376.3(VDR):c.146+8C>T rs10783218 0.07673
NM_006208.3(ENPP1):c.2661A>G (p.Ala887=) rs1804025 0.07647
NM_006208.3(ENPP1):c.313+9G>T rs7773477 0.05630
NM_006208.3(ENPP1):c.*3838G>A rs59958908 0.05378
NM_004407.4(DMP1):c.*905A>G rs73843105 0.04782
NM_006208.3(ENPP1):c.*1670T>C rs9493122 0.04663
NM_006208.3(ENPP1):c.*735A>G rs12212882 0.04659
NM_006208.3(ENPP1):c.*1348T>C rs9483349 0.04649
NM_004407.4(DMP1):c.*280C>T rs76370957 0.04084
NM_006208.3(ENPP1):c.*2282G>A rs73778612 0.04080
NM_006208.3(ENPP1):c.*3017C>T rs1931009 0.03561
NM_006208.3(ENPP1):c.1566-14T>C rs75272847 0.03524
NM_006208.3(ENPP1):c.*2036A>G rs73778611 0.03506
NM_000376.3(VDR):c.*437C>G rs11574119 0.03464
NM_006208.3(ENPP1):c.*3706G>A rs12205225 0.03390
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_006208.3(ENPP1):c.2320C>T (p.Arg774Cys) rs28933977 0.02826
NM_004407.4(DMP1):c.*457T>C rs6842411 0.02615
NM_004407.4(DMP1):c.*329A>C rs6816379 0.02610
NM_006208.3(ENPP1):c.*3784T>C rs116417632 0.02593
NM_006208.3(ENPP1):c.-10C>T rs750410843 0.02463
NM_006208.3(ENPP1):c.*3625G>A rs150482147 0.02409
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_000785.4(CYP27B1):c.942G>A (p.Leu314=) rs8176345 0.02124
NM_000376.3(VDR):c.*408T>C rs112308011 0.01929
NM_006208.3(ENPP1):c.*477A>T rs113086095 0.01777
NM_006208.3(ENPP1):c.-13G>A rs535293574 0.01629
NM_006208.3(ENPP1):c.1329T>C (p.Asp443=) rs113723070 0.01601
NM_000376.3(VDR):c.*1226T>C rs11574129 0.01576
NM_000376.3(VDR):c.*2593A>G rs11168263 0.01497
NM_006208.3(ENPP1):c.2002G>A (p.Glu668Lys) rs115371819 0.01496
NM_000376.3(VDR):c.*409G>A rs11574118 0.01495
NM_000785.4(CYP27B1):c.*415G>A rs8176351 0.01487
NM_006208.3(ENPP1):c.1831C>G (p.Leu611Val) rs79079368 0.01455
NM_004407.4(DMP1):c.*603C>T rs78837592 0.01450
NM_006208.3(ENPP1):c.*3163C>T rs55670720 0.01449
NM_000376.3(VDR):c.*1503G>A rs115591719 0.01430
NM_006208.3(ENPP1):c.*2900G>T rs78495668 0.01409
NM_006208.3(ENPP1):c.2106T>C (p.Ser702=) rs7750837 0.01366
NM_004407.4(DMP1):c.1388A>G (p.Lys463Arg) rs34661425 0.01341
NM_006208.3(ENPP1):c.1317A>G (p.Lys439=) rs9483347 0.01323
NM_000444.6(PHEX):c.-108A>G rs149541983 0.01269
NM_006208.3(ENPP1):c.*2301A>G rs115728089 0.01267
NM_020638.3(FGF23):c.*1079A>G rs13312798 0.01230
NM_000376.3(VDR):c.*1865G>A rs11540149 0.01124
NM_006208.3(ENPP1):c.*2076C>T rs117531639 0.01090
NM_000376.3(VDR):c.*1420T>C rs56382517 0.01021
NM_000444.6(PHEX):c.1206A>G (p.Gln402=) rs151234075 0.00986
NM_020638.3(FGF23):c.*23T>G rs13312794 0.00893
NM_006208.3(ENPP1):c.*400C>A rs55828988 0.00861
NM_006208.3(ENPP1):c.*1224A>G rs115623040 0.00854
NM_006208.3(ENPP1):c.*4248G>A rs150587148 0.00820
NM_000376.3(VDR):c.48T>C (p.Phe16=) rs11832059 0.00770
NM_000376.3(VDR):c.*222G>C rs11574117 0.00758
NM_000444.6(PHEX):c.489A>G (p.Ser163=) rs140231382 0.00748
NM_000444.6(PHEX):c.537T>A (p.Val179=) rs137961493 0.00746
NM_020638.3(FGF23):c.*388G>A rs13312795 0.00731
NM_000376.3(VDR):c.*748T>G rs11574124 0.00684
NM_000376.3(VDR):c.*1992C>T rs142851923 0.00673
NM_000444.6(PHEX):c.*218A>C rs141594056 0.00645
NM_000376.3(VDR):c.444C>T (p.Ser148=) rs2229828 0.00638
NM_000376.3(VDR):c.-84+5034C>T rs113046660 0.00573
NM_006208.3(ENPP1):c.*1122A>G rs148507889 0.00539
NM_006208.3(ENPP1):c.*3176T>A rs114333444 0.00525
NM_000376.3(VDR):c.*184T>G rs11574116 0.00517
NM_006208.3(ENPP1):c.*1038T>A rs79214335 0.00496
NM_004407.4(DMP1):c.475C>A (p.Gln159Lys) rs79402270 0.00466
NM_000376.3(VDR):c.*2023G>A rs11574135 0.00453
NM_000376.3(VDR):c.*1477C>T rs11574132 0.00409
NM_020638.3(FGF23):c.*1971T>C rs140798293 0.00403
NM_020638.3(FGF23):c.*1471C>A rs114125104 0.00388
NM_004407.4(DMP1):c.*380C>T rs150349595 0.00387
NM_020638.3(FGF23):c.*1219C>T rs115582772 0.00387
NM_020638.3(FGF23):c.*1316C>A rs138576496 0.00387
NM_020638.3(FGF23):c.*1464T>C rs144700678 0.00387
NM_006208.3(ENPP1):c.*96C>T rs147396850 0.00384
NM_020638.3(FGF23):c.583C>T (p.Pro195Ser) rs13312793 0.00310
NM_006208.3(ENPP1):c.2657G>C (p.Arg886Thr) rs8192683 0.00299
NM_020638.3(FGF23):c.*1772G>A rs13312800 0.00298
NM_020638.3(FGF23):c.423G>T (p.Ala141=) rs13312792 0.00290
NM_000444.6(PHEX):c.*58C>T rs183223600 0.00262
NM_006208.3(ENPP1):c.2124C>A (p.Phe708Leu) rs140521704 0.00260
NM_000376.3(VDR):c.*2127C>T rs973050505 0.00253
NM_004407.4(DMP1):c.879T>C (p.Ser293=) rs150896376 0.00248
NM_000376.3(VDR):c.933G>A (p.Glu311=) rs150775215 0.00217
NM_006208.3(ENPP1):c.*3879A>G rs144511581 0.00216
NM_006208.3(ENPP1):c.*4064T>C rs141760620 0.00214
NM_004407.4(DMP1):c.815G>A (p.Arg272His) rs145237146 0.00202
NM_004407.4(DMP1):c.159C>T (p.Gly53=) rs144471060 0.00197
NM_000376.3(VDR):c.909C>T (p.Ala303=) rs12721365 0.00195
NM_004407.4(DMP1):c.639G>A (p.Glu213=) rs116732769 0.00193
NM_000376.3(VDR):c.*843C>T rs576342182 0.00188
NM_006208.3(ENPP1):c.2757A>T (p.Pro919=) rs73541508 0.00178
NM_000376.3(VDR):c.908-14A>G rs11574107 0.00170
NM_000785.4(CYP27B1):c.496G>C (p.Val166Leu) rs8176344 0.00170
NM_020638.3(FGF23):c.*1886C>A rs183802802 0.00169
NM_006208.3(ENPP1):c.*3920G>A rs111741864 0.00167
NM_020638.3(FGF23):c.*553C>A rs80210924 0.00163
NM_006208.3(ENPP1):c.*3528C>T rs557822175 0.00161
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_020638.3(FGF23):c.*29C>G rs71534281 0.00140
NM_006208.3(ENPP1):c.*3594C>T rs140569538 0.00139
NM_000785.4(CYP27B1):c.*77G>A rs8176350 0.00137
NM_004407.4(DMP1):c.*918T>G rs146337309 0.00118
NM_006208.3(ENPP1):c.*1307T>G rs189263683 0.00117
NM_006208.3(ENPP1):c.*4015G>A rs531152298 0.00116
NM_006208.3(ENPP1):c.1056T>G (p.Ala352=) rs150279426 0.00115
NM_004407.4(DMP1):c.600G>A (p.Gly200=) rs34682707 0.00111
NM_006208.3(ENPP1):c.313+13G>T rs748468831 0.00111
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_006208.3(ENPP1):c.*1499C>T rs541116091 0.00106
NM_000444.6(PHEX):c.903C>T (p.Asn301=) rs142755818 0.00101
NM_006208.3(ENPP1):c.*804A>G rs114078048 0.00098
NM_000376.3(VDR):c.*2832C>T rs73109835 0.00097
NM_020638.3(FGF23):c.*1575T>C rs562433374 0.00088
NM_000785.4(CYP27B1):c.*143G>A rs569065283 0.00087
NM_006208.3(ENPP1):c.2624C>T (p.Ser875Phe) rs140729669 0.00086
NM_000376.3(VDR):c.*1319C>T rs11574131 0.00083
NM_000444.6(PHEX):c.81C>T (p.Val27=) rs139862893 0.00082
NM_004407.4(DMP1):c.724T>C (p.Ser242Pro) rs147552663 0.00080
NM_006208.3(ENPP1):c.522C>T (p.Gly174=) rs144882196 0.00080
NM_000444.6(PHEX):c.-126C>G rs185830047 0.00078
NM_000785.4(CYP27B1):c.-22C>G rs146281435 0.00077
NM_006208.3(ENPP1):c.2335A>C (p.Thr779Pro) rs1805138 0.00076
NM_006208.3(ENPP1):c.*3718C>T rs867805924 0.00071
NM_000444.6(PHEX):c.849+3A>G rs200585038 0.00070
NM_004407.4(DMP1):c.312C>T (p.Asp104=) rs148543792 0.00070
NM_004407.4(DMP1):c.943G>C (p.Gly315Arg) rs149603030 0.00069
NM_020638.3(FGF23):c.*235C>T rs566868058 0.00064
NM_006208.3(ENPP1):c.*1239T>C rs1251519009 0.00063
NM_000785.4(CYP27B1):c.1057C>G (p.Pro353Ala) rs151335249 0.00061
NM_004407.4(DMP1):c.*373T>A rs183996325 0.00061
NM_006208.3(ENPP1):c.*2564A>G rs534823686 0.00061
NM_006208.3(ENPP1):c.313+10T>G rs202225018 0.00059
NM_004407.4(DMP1):c.1023C>T (p.Ser341=) rs140807822 0.00056
NM_004407.4(DMP1):c.1107C>T (p.Asp369=) rs147451774 0.00049
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_004407.4(DMP1):c.1356C>T (p.Asp452=) rs149026481 0.00043
NM_004407.4(DMP1):c.1433A>C (p.Asp478Ala) rs148156611 0.00043
NM_000376.3(VDR):c.52C>T (p.Arg18Trp) rs147496897 0.00038
NM_000785.4(CYP27B1):c.*635G>A rs533718329 0.00038
NM_006208.3(ENPP1):c.*1525T>G rs751093256 0.00038
NM_006208.3(ENPP1):c.*467A>C rs866470811 0.00038
NM_004407.4(DMP1):c.1255C>T (p.Pro419Ser) rs140275311 0.00036
NM_006208.3(ENPP1):c.*1125G>T rs565731581 0.00036
NM_006208.3(ENPP1):c.*2342G>T rs570500845 0.00036
NM_000376.3(VDR):c.1016T>C (p.Val339Ala) rs187843998 0.00035
NM_000444.6(PHEX):c.2214G>A (p.Thr738=) rs140742016 0.00035
NM_004407.4(DMP1):c.91G>A (p.Glu31Lys) rs202210004 0.00034
NM_006208.3(ENPP1):c.*3602C>T rs540525767 0.00034
NM_000444.6(PHEX):c.*227C>G rs765787001 0.00033
NM_000785.4(CYP27B1):c.1505A>G (p.Asn502Ser) rs201629800 0.00033
NM_000785.4(CYP27B1):c.*446G>A rs763711308 0.00031
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln) rs147859619 0.00030
NM_004407.4(DMP1):c.*159T>A rs865870083 0.00030
NM_006208.3(ENPP1):c.*1960C>T rs538657283 0.00028
NM_006208.3(ENPP1):c.*657A>G rs1020041286 0.00028
NM_020638.3(FGF23):c.*2062A>C rs558079364 0.00028
NM_000376.3(VDR):c.146+9dup rs748166237 0.00024
NM_000785.4(CYP27B1):c.386+10C>T rs376212738 0.00023
NM_000785.4(CYP27B1):c.40C>T (p.Arg14Cys) rs150648140 0.00023
NM_006208.3(ENPP1):c.*2698G>A rs146550172 0.00023
NM_020638.3(FGF23):c.*784C>T rs553998728 0.00022
NM_000376.3(VDR):c.-84+5072C>T rs144982071 0.00021
NM_000376.3(VDR):c.362G>A (p.Arg121Gln) rs200765991 0.00021
NM_000444.6(PHEX):c.1202C>T (p.Pro401Leu) rs145778165 0.00021
NM_006208.3(ENPP1):c.*128C>T rs371896132 0.00021
NM_006208.3(ENPP1):c.2336C>A (p.Thr779Asn) rs200239821 0.00021
NM_000444.6(PHEX):c.1483-7T>C rs369175587 0.00020
NM_000785.4(CYP27B1):c.*345T>C rs141820034 0.00020
NM_000376.3(VDR):c.*877C>G rs556844112 0.00019
NM_000444.6(PHEX):c.631G>A (p.Asp211Asn) rs370610267 0.00019
NM_000785.4(CYP27B1):c.*426T>C rs751250622 0.00019
NM_000785.4(CYP27B1):c.541G>T (p.Ala181Ser) rs368126466 0.00019
NM_004407.4(DMP1):c.*527G>A rs554759690 0.00019
NM_004407.4(DMP1):c.55-3T>G rs181490843 0.00019
NM_020638.3(FGF23):c.*1398T>A rs531815578 0.00019
NM_020638.3(FGF23):c.551A>G (p.Asp184Gly) rs144925325 0.00019
NM_000376.3(VDR):c.*967C>A rs775657996 0.00018
NM_004407.4(DMP1):c.996C>G (p.Asn332Lys) rs200882371 0.00017
NM_006208.3(ENPP1):c.*1105T>C rs534792138 0.00017
NM_006208.3(ENPP1):c.*2737C>T rs545095322 0.00017
NM_006208.3(ENPP1):c.*910C>G rs180843359 0.00017
NM_006208.3(ENPP1):c.614C>A (p.Ala205Glu) rs145868241 0.00017
NM_020638.3(FGF23):c.*998C>G rs71583766 0.00017
NM_000376.3(VDR):c.*487C>T rs187706787 0.00016
NM_004407.4(DMP1):c.313G>A (p.Asp105Asn) rs142880465 0.00016
NM_006208.3(ENPP1):c.*637A>C rs552323303 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_000444.6(PHEX):c.1026C>T (p.Arg342=) rs746847960 0.00014
NM_000444.6(PHEX):c.2068C>A (p.His690Asn) rs200733697 0.00014
NM_000444.6(PHEX):c.690C>T (p.Ala230=) rs149487757 0.00014
NM_000785.4(CYP27B1):c.348C>T (p.His116=) rs372771210 0.00014
NM_004407.4(DMP1):c.428C>T (p.Thr143Ile) rs370153862 0.00014
NM_020638.3(FGF23):c.*1492T>C rs986708682 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_004407.4(DMP1):c.*61C>T rs886059688 0.00013
NM_000444.6(PHEX):c.*339A>G rs773553690 0.00012
NM_000444.6(PHEX):c.957G>A (p.Lys319=) rs373261521 0.00012
NM_006208.3(ENPP1):c.*1221A>G rs537272519 0.00012
NM_006208.3(ENPP1):c.1798T>C (p.Tyr600His) rs199890118 0.00012
NM_020638.3(FGF23):c.*1803C>T rs13312801 0.00012
NM_000376.3(VDR):c.*2545G>T rs765177595 0.00011
NM_000785.4(CYP27B1):c.*329T>C rs895857646 0.00011
NM_000785.4(CYP27B1):c.1286G>A (p.Arg429His) rs568165874 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_006208.3(ENPP1):c.*2966C>G rs1224210803 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.64C>T (p.Arg22Trp) rs199929033 0.00009
NM_000444.6(PHEX):c.444T>C (p.Ile148=) rs145881500 0.00009
NM_006208.3(ENPP1):c.*4346T>A rs374532158 0.00009
NM_006208.3(ENPP1):c.*485C>A rs563326994 0.00009
NM_006208.3(ENPP1):c.154C>T (p.Pro52Ser) rs754866098 0.00009
NM_000376.3(VDR):c.*773T>G rs550578263 0.00008
NM_000444.6(PHEX):c.*361T>C rs182654518 0.00008
NM_004407.4(DMP1):c.674G>A (p.Ser225Asn) rs373051924 0.00008
NM_006208.3(ENPP1):c.*1858C>G rs559926548 0.00008
NM_004407.4(DMP1):c.*77T>C rs963086141 0.00007
NM_006208.3(ENPP1):c.1540T>C (p.Leu514=) rs536023117 0.00007
NM_006208.3(ENPP1):c.313+11G>T rs781539069 0.00007
NM_000376.3(VDR):c.1095G>A (p.Thr365=) rs578013785 0.00006
NM_000444.6(PHEX):c.118+7G>T rs534550003 0.00006
NM_004407.4(DMP1):c.*695T>A rs886059690 0.00006
NM_006208.3(ENPP1):c.*4586G>A rs886061083 0.00006
NM_006208.3(ENPP1):c.685G>A (p.Gly229Ser) rs147798392 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_000444.6(PHEX):c.*360A>C rs1012718966 0.00005
NM_006208.3(ENPP1):c.*4471C>T rs755679925 0.00005
NM_006208.3(ENPP1):c.2380G>A (p.Val794Ile) rs201757026 0.00005
NM_006208.3(ENPP1):c.2415A>T (p.Gly805=) rs150970657 0.00005
NM_020638.3(FGF23):c.*181T>C rs886049409 0.00005
NM_020638.3(FGF23):c.331G>A (p.Glu111Lys) rs765478662 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_000785.4(CYP27B1):c.1166G>A (p.Arg389His) rs118204009 0.00004
NM_000785.4(CYP27B1):c.801C>T (p.His267=) rs150334927 0.00004
NM_001017535.1(VDR):c.-250G>A rs886049440 0.00004
NM_004407.4(DMP1):c.*131T>C rs992683383 0.00004
NM_004407.4(DMP1):c.*799T>C rs563220149 0.00004
NM_004407.4(DMP1):c.11G>C (p.Ser4Thr) rs373562639 0.00004
NM_006208.3(ENPP1):c.*1559G>T rs551333973 0.00004
NM_006208.3(ENPP1):c.*1716G>A rs969372935 0.00004
NM_006208.3(ENPP1):c.*3126C>T rs886061078 0.00004
NM_006208.3(ENPP1):c.*4571G>C rs574559068 0.00004
NM_006208.3(ENPP1):c.*4641A>G rs545401301 0.00004
NM_006208.3(ENPP1):c.21G>T (p.Ala7=) rs886061063 0.00004
NM_006208.3(ENPP1):c.2462G>A (p.Arg821His) rs367759638 0.00004
NM_006208.3(ENPP1):c.536A>G (p.Asn179Ser) rs2273411 0.00004
NM_020638.3(FGF23):c.*1049C>T rs13312797 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.65G>A (p.Arg22Gln) rs201676749 0.00003
NM_000444.6(PHEX):c.2213C>T (p.Thr738Met) rs371825581 0.00003
NM_004407.4(DMP1):c.370A>C (p.Lys124Gln) rs886059686 0.00003
NM_004407.4(DMP1):c.905G>T (p.Arg302Ile) rs376055601 0.00003
NM_006208.3(ENPP1):c.*3450T>C rs886061081 0.00003
NM_006208.3(ENPP1):c.*3919C>T rs866475719 0.00003
NM_006208.3(ENPP1):c.1998G>A (p.Gln666=) rs140470927 0.00003
NM_006208.3(ENPP1):c.2089G>A (p.Val697Met) rs762065573 0.00003
NM_020638.3(FGF23):c.*1292C>T rs897877189 0.00003
NM_020638.3(FGF23):c.*1352T>C rs886049398 0.00003
NM_020638.3(FGF23):c.*182G>A rs563817819 0.00003
NM_020638.3(FGF23):c.*856C>G rs886049399 0.00003
NM_020638.3(FGF23):c.-23C>T rs769953313 0.00003
NM_000376.3(VDR):c.*71G>A rs527310161 0.00002
NM_000376.3(VDR):c.1134G>T (p.Leu378=) rs199583004 0.00002
NM_000444.6(PHEX):c.*305G>A rs189715720 0.00002
NM_000444.6(PHEX):c.*48G>A rs765479131 0.00002
NM_000444.6(PHEX):c.1374T>C (p.Asp458=) rs370746437 0.00002
NM_000444.6(PHEX):c.1655C>T (p.Ala552Val) rs773244112 0.00002
NM_000785.4(CYP27B1):c.*764T>A rs997607806 0.00002
NM_006208.3(ENPP1):c.157A>G (p.Met53Val) rs1328207700 0.00002
NM_006208.3(ENPP1):c.2230+13C>T rs537428242 0.00002
NM_006208.3(ENPP1):c.313+15G>T rs770352358 0.00002
NM_020638.3(FGF23):c.*944G>A rs561820380 0.00002
NM_020638.3(FGF23):c.249G>A (p.Val83=) rs753676774 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.1183G>C (p.Glu395Gln) rs1472591641 0.00001
NM_000376.3(VDR):c.221G>A (p.Arg74His) rs1000899385 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.755+13T>C rs768024598 0.00001
NM_000376.3(VDR):c.972C>T (p.Asn324=) rs754559635 0.00001
NM_000444.6(PHEX):c.285C>G (p.Pro95=) rs1057515842 0.00001
NM_000785.4(CYP27B1):c.*295G>A rs886049724 0.00001
NM_000785.4(CYP27B1):c.*426_*428dup rs886049722 0.00001
NM_000785.4(CYP27B1):c.*472C>A rs886049721 0.00001
NM_000785.4(CYP27B1):c.*76G>A rs147119803 0.00001
NM_000785.4(CYP27B1):c.117C>T (p.Asp39=) rs764141450 0.00001
NM_000785.4(CYP27B1):c.318G>A (p.Glu106=) rs1300048405 0.00001
NM_004407.4(DMP1):c.*27C>T rs765769920 0.00001
NM_004407.4(DMP1):c.*438G>T rs925863986 0.00001
NM_004407.4(DMP1):c.*898G>T rs535279544 0.00001
NM_004407.4(DMP1):c.1333G>A (p.Glu445Lys) rs761098924 0.00001
NM_004407.4(DMP1):c.1408G>A (p.Glu470Lys) rs369921592 0.00001
NM_004407.4(DMP1):c.1448A>C (p.Asn483Thr) rs574215585 0.00001
NM_004407.4(DMP1):c.542G>A (p.Gly181Asp) rs529731862 0.00001
NM_004407.4(DMP1):c.658C>A (p.Pro220Thr) rs367695473 0.00001
NM_004407.4(DMP1):c.709A>G (p.Met237Val) rs201413886 0.00001
NM_006208.3(ENPP1):c.*120C>T rs1435986196 0.00001
NM_006208.3(ENPP1):c.*1795A>T rs886061074 0.00001
NM_006208.3(ENPP1):c.*1940T>G rs1752128155 0.00001
NM_006208.3(ENPP1):c.*2130C>T rs886061076 0.00001
NM_006208.3(ENPP1):c.*3885C>T rs1223923900 0.00001
NM_006208.3(ENPP1):c.*4047C>T rs1013601584 0.00001
NM_006208.3(ENPP1):c.*4332C>T rs1446084490 0.00001
NM_006208.3(ENPP1):c.*4369C>T rs1300407002 0.00001
NM_006208.3(ENPP1):c.*536T>C rs184796209 0.00001
NM_006208.3(ENPP1):c.*671T>C rs1022965766 0.00001
NM_006208.3(ENPP1):c.*888C>T rs886061069 0.00001
NM_006208.3(ENPP1):c.1296G>C (p.Lys432Asn) rs886061066 0.00001
NM_006208.3(ENPP1):c.1653T>C (p.Tyr551=) rs1452598874 0.00001
NM_006208.3(ENPP1):c.1791T>C (p.Asn597=) rs548504035 0.00001
NM_006208.3(ENPP1):c.214C>T (p.Pro72Ser) rs1475050245 0.00001
NM_006208.3(ENPP1):c.443C>G (p.Thr148Ser) rs1481378734 0.00001
NM_006208.3(ENPP1):c.802T>C (p.Tyr268His) rs17847050 0.00001
NM_020638.3(FGF23):c.*1134A>T rs1865034354 0.00001
NM_020638.3(FGF23):c.*1925A>G rs886049397 0.00001
NM_020638.3(FGF23):c.*614G>A rs886049401 0.00001
NM_020638.3(FGF23):c.*93G>A rs886049410 0.00001
NM_020638.3(FGF23):c.138A>G (p.Thr46=) rs368115734 0.00001
NM_020638.3(FGF23):c.457C>G (p.Pro153Ala) rs774018822 0.00001
NM_020638.3(FGF23):c.515C>T (p.Pro172Leu) rs573322878 0.00001
NM_020638.3(FGF23):c.57G>A (p.Met19Ile) rs766148024 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>A rs9729
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.*2117_*2122del rs17878969
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+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.1121C>G (p.Pro374Arg) rs200556498
NM_000376.3(VDR):c.278-5C>T rs551270527
NM_000376.3(VDR):c.945G>T (p.Lys315Asn) rs886049437
NM_000444.6(PHEX):c.*250A>C rs1057515844
NM_000444.6(PHEX):c.*388A>G rs759086924
NM_000444.6(PHEX):c.-10G>T rs1057515841
NM_000444.6(PHEX):c.-126C>A rs185830047
NM_000444.6(PHEX):c.1025G>A (p.Arg342His) rs376461141
NM_000444.6(PHEX):c.1586+14A>T rs771287470
NM_000444.6(PHEX):c.1645+1G>A rs886041225
NM_000444.6(PHEX):c.2052C>T (p.Phe684=) rs373674171
NM_000444.6(PHEX):c.2071-1G>A rs886041374
NM_000444.6(PHEX):c.653A>G (p.His218Arg) rs774907553
NM_000444.6(PHEX):c.700G>A (p.Asp234Asn) rs1057515843
NM_000785.4(CYP27B1):c.*215G>C rs557294448
NM_000785.4(CYP27B1):c.*301T>C rs886049723
NM_000785.4(CYP27B1):c.*722C>G rs886049720
NM_000785.4(CYP27B1):c.1230G>C (p.Leu410=) rs1200364118
NM_000785.4(CYP27B1):c.1385A>T (p.Glu462Val) rs886049725
NM_000785.4(CYP27B1):c.320G>A (p.Arg107His) rs28934604
NM_000785.4(CYP27B1):c.437T>A (p.Leu146His) rs886049728
NM_000785.4(CYP27B1):c.454G>A (p.Ala152Thr) rs777612495
NM_000785.4(CYP27B1):c.750G>A (p.Trp250Ter) rs1565811124
NM_000785.4(CYP27B1):c.788T>G (p.Phe263Cys) rs886049727
NM_000785.4(CYP27B1):c.794A>T (p.Gln265Leu) rs886049726
NM_001017535.1(VDR):c.-263A>C rs963429243
NM_004407.4(DMP1):c.*602C>A rs886059689
NM_004407.4(DMP1):c.*808G>A rs1729019747
NM_004407.4(DMP1):c.*850G>A rs570065274
NM_004407.4(DMP1):c.*875T>C rs1729022649
NM_004407.4(DMP1):c.1456A>G (p.Ile486Val) rs886059687
NM_004407.4(DMP1):c.1534G>A (p.Gly512Ser) rs377414504
NM_004407.4(DMP1):c.1538A>G (p.Tyr513Cys) rs1264750963
NM_004407.4(DMP1):c.289A>G (p.Lys97Glu) rs886059685
NM_004407.4(DMP1):c.844C>A (p.Leu282Ile) rs141979823
NM_006208.3(ENPP1):c.*103A>G rs934807026
NM_006208.3(ENPP1):c.*121G>C rs11964389
NM_006208.3(ENPP1):c.*1236G>T rs11154649
NM_006208.3(ENPP1):c.*1290T>A rs886061073
NM_006208.3(ENPP1):c.*1299C>T rs11965061
NM_006208.3(ENPP1):c.*150G>A rs571779819
NM_006208.3(ENPP1):c.*1618A>G rs1782479055
NM_006208.3(ENPP1):c.*1864T>C rs1782482761
NM_006208.3(ENPP1):c.*2073C>G rs541153028
NM_006208.3(ENPP1):c.*2129T>C rs886061075
NM_006208.3(ENPP1):c.*2543T>G rs1782491483
NM_006208.3(ENPP1):c.*3600G>T rs573224206
NM_006208.3(ENPP1):c.*38G>A rs191654371
NM_006208.3(ENPP1):c.*392G>A rs1782461266
NM_006208.3(ENPP1):c.*4014C>A rs774267525
NM_006208.3(ENPP1):c.*4287G>A rs1782525012
NM_006208.3(ENPP1):c.*4507A>G rs1017283996
NM_006208.3(ENPP1):c.*4620G>T rs1782530336
NM_006208.3(ENPP1):c.*516T>C rs1782462977
NM_006208.3(ENPP1):c.*577G>A rs891388334
NM_006208.3(ENPP1):c.*772A>G rs34608785
NM_006208.3(ENPP1):c.*772A>T rs34608785
NM_006208.3(ENPP1):c.*848T>C rs1782467588
NM_006208.3(ENPP1):c.*902G>A rs572823916
NM_006208.3(ENPP1):c.10G>A (p.Asp4Asn) rs941474086
NM_006208.3(ENPP1):c.165G>A (p.Val55=) rs768034745
NM_006208.3(ENPP1):c.1724-5T>G rs369585711
NM_006208.3(ENPP1):c.1946-14T>C rs886061067
NM_006208.3(ENPP1):c.2191A>T (p.Asn731Tyr) rs748292010
NM_006208.3(ENPP1):c.2236A>C (p.Asn746His) rs144099489
NM_006208.3(ENPP1):c.2444+10T>C rs947631280
NM_006208.3(ENPP1):c.332G>A (p.Arg111His) rs749866787
NM_006208.3(ENPP1):c.601C>T (p.Pro201Ser) rs752171315
NM_020638.3(FGF23):c.*1548T>G rs762018989
NM_020638.3(FGF23):c.*278G>C rs886049408
NM_020638.3(FGF23):c.*28C>G rs886049411
NM_020638.3(FGF23):c.*460A>T rs775907152
NM_020638.3(FGF23):c.*664A>T rs886049400
NM_020638.3(FGF23):c.-111C>T rs1865158291
NM_020638.3(FGF23):c.-53C>G rs187035769
NM_020638.3(FGF23):c.-55C>A rs760895385
NM_020638.3(FGF23):c.211+12T>G rs1865152731
NM_020638.3(FGF23):c.414G>C (p.Leu138=) rs1865054870
NM_020638.3(FGF23):c.555G>C (p.Ser185=) rs115283398
NM_020638.3(FGF23):c.60C>T (p.Ser20=) rs763114180

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