ClinVar Miner

List of variants reported as uncertain significance for abnormal mineralization disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 529
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HGVS dbSNP gnomAD frequency
NM_006208.3(ENPP1):c.*1240T>C rs758925757 0.10712
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_006208.3(ENPP1):c.*96C>T rs147396850 0.00384
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_024529.5(CDC73):c.*3419T>A rs566373225 0.00205
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_000376.3(VDR):c.*843C>T rs576342182 0.00188
NM_000376.3(VDR):c.908-14A>G rs11574107 0.00170
NM_006208.3(ENPP1):c.*3920G>A rs111741864 0.00167
NM_000376.3(VDR):c.1085C>T (p.Thr362Ile) rs11574115 0.00159
NM_054027.6(ANKH):c.*3962T>C rs528418242 0.00159
NM_054027.6(ANKH):c.*3616C>T rs550672520 0.00158
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_024529.5(CDC73):c.*1365T>C rs180929933 0.00143
NM_004407.4(DMP1):c.*918T>G rs146337309 0.00118
NM_024529.5(CDC73):c.*1472T>G rs576716003 0.00117
NM_006208.3(ENPP1):c.1056T>G (p.Ala352=) rs150279426 0.00115
NM_024529.5(CDC73):c.*2446C>T rs572307472 0.00114
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_000388.4(CASR):c.-154T>A rs186365367 0.00101
NM_000388.4(CASR):c.6A>C (p.Ala2=) rs112042188 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_006208.3(ENPP1):c.522C>T (p.Gly174=) rs144882196 0.00080
NM_024529.5(CDC73):c.*1132G>T rs1017988008 0.00078
NM_000785.4(CYP27B1):c.-22C>G rs146281435 0.00077
NM_024529.5(CDC73):c.*3266A>G rs532839308 0.00075
NM_006208.3(ENPP1):c.*3718C>T rs867805924 0.00071
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_006208.3(ENPP1):c.*1239T>C rs1251519009 0.00063
NM_000388.4(CASR):c.*923T>C rs201230484 0.00061
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_024529.5(CDC73):c.-11G>A rs80356643 0.00056
NM_054027.6(ANKH):c.*6012T>C rs576051028 0.00056
NM_054027.6(ANKH):c.*1646A>G rs564365629 0.00052
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_000388.4(CASR):c.1733-9A>G rs190731787 0.00044
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_024529.5(CDC73):c.*453A>C rs547363180 0.00042
NM_054027.6(ANKH):c.*1626G>A rs760609731 0.00041
NM_000388.4(CASR):c.*1201C>T rs886057837 0.00039
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_054027.6(ANKH):c.*4103G>A rs181397772 0.00038
NM_000388.4(CASR):c.2064C>T (p.Phe688=) rs150869744 0.00037
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_024529.5(CDC73):c.*1761T>C rs528066706 0.00036
NM_054027.6(ANKH):c.*3554C>T rs185233583 0.00036
NM_054027.6(ANKH):c.*4958T>C rs187771198 0.00036
NM_000376.3(VDR):c.1016T>C (p.Val339Ala) rs187843998 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_004407.4(DMP1):c.*159T>A rs865870083 0.00030
NM_024529.5(CDC73):c.*1787A>G rs747621423 0.00029
NM_054027.6(ANKH):c.*405G>A rs557668196 0.00029
NM_006208.3(ENPP1):c.*1960C>T rs538657283 0.00028
NM_006208.3(ENPP1):c.*657A>G rs1020041286 0.00028
NM_024529.5(CDC73):c.*1644C>T rs764317616 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_020638.3(FGF23):c.*784C>T rs553998728 0.00022
NM_024529.5(CDC73):c.*3791T>C rs886045739 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_054027.6(ANKH):c.*3172A>G rs933543701 0.00021
NM_000785.4(CYP27B1):c.*345T>C rs141820034 0.00020
NM_000376.3(VDR):c.*877C>G rs556844112 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_054027.6(ANKH):c.*6235G>A rs546234916 0.00019
NM_000376.3(VDR):c.*967C>A rs775657996 0.00018
NM_024529.5(CDC73):c.*1833A>G rs150894778 0.00018
NM_000388.4(CASR):c.*1169C>T rs200652347 0.00017
NM_000388.4(CASR):c.*1193C>T rs886057835 0.00017
NM_000388.4(CASR):c.*1197C>G rs886057836 0.00017
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.*910C>G rs180843359 0.00017
NM_006208.3(ENPP1):c.614C>A (p.Ala205Glu) rs145868241 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_024529.5(CDC73):c.-143G>C rs778446879 0.00016
NM_000376.3(VDR):c.889G>A (p.Val297Ile) rs144756403 0.00014
NM_000388.4(CASR):c.1752G>A (p.Lys584=) rs138638329 0.00014
NM_000444.6(PHEX):c.1026C>T (p.Arg342=) rs746847960 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_024529.5(CDC73):c.*683G>A rs905879297 0.00013
NM_054027.6(ANKH):c.*3386G>A rs368727070 0.00013
NM_054027.6(ANKH):c.*4250T>C rs776929735 0.00013
NM_054027.6(ANKH):c.*5900T>C rs943784205 0.00013
NM_054027.6(ANKH):c.*6034A>C rs886060067 0.00013
NM_054027.6(ANKH):c.*6205G>A rs886060065 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_024529.5(CDC73):c.*1985T>A rs886045726 0.00012
NM_054027.6(ANKH):c.*3548G>A rs539426552 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_054027.6(ANKH):c.*2017G>A rs759890855 0.00011
NM_054027.6(ANKH):c.*3752G>A rs896227717 0.00011
NM_054027.6(ANKH):c.*5912T>A rs886060068 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_024529.5(CDC73):c.*2420A>C rs536960020 0.00010
NM_024529.5(CDC73):c.-30C>T rs770313192 0.00010
NM_054027.6(ANKH):c.*2236G>A rs201439698 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_000388.4(CASR):c.-137C>T rs201074178 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_024529.4(CDC73):c.-190G>C rs886045709 0.00009
NM_024529.5(CDC73):c.*1499T>A rs138503809 0.00009
NM_054027.6(ANKH):c.*1754G>A rs971385670 0.00009
NM_054027.6(ANKH):c.*5930C>T rs747178382 0.00009
NM_000376.3(VDR):c.*773T>G rs550578263 0.00008
NM_000388.4(CASR):c.1188A>G (p.Thr396=) rs200312817 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_024529.5(CDC73):c.*2625A>G rs531872328 0.00007
NM_024529.5(CDC73):c.1333G>A (p.Val445Ile) rs368442389 0.00007
NM_054027.6(ANKH):c.*793A>G rs377136068 0.00007
NM_000376.3(VDR):c.1095G>A (p.Thr365=) rs578013785 0.00006
NM_000388.4(CASR):c.-111C>A rs201098532 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_024529.5(CDC73):c.*1599A>G rs543573271 0.00006
NM_024529.5(CDC73):c.*2801A>G rs999015399 0.00006
NM_024529.5(CDC73):c.*2962T>C rs147904515 0.00006
NM_024529.5(CDC73):c.*948C>T rs761544591 0.00006
NM_054027.6(ANKH):c.*1081C>T rs886060083 0.00006
NM_054027.6(ANKH):c.*1270A>C rs187733448 0.00006
NM_054027.6(ANKH):c.*3562G>T rs917646845 0.00006
NM_054027.6(ANKH):c.*5899A>G rs976896150 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_000388.4(CASR):c.*251G>C rs904222689 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_024529.5(CDC73):c.*1251A>G rs550417983 0.00005
NM_054027.6(ANKH):c.*2393A>T rs963039838 0.00005
NM_054027.6(ANKH):c.*4635A>C rs1036873430 0.00005
NM_054027.6(ANKH):c.*6129G>A rs757736999 0.00005
NM_054027.6(ANKH):c.*999T>C rs957305303 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_000388.4(CASR):c.2955C>T (p.Asn985=) rs199884115 0.00004
NM_000388.4(CASR):c.32T>C (p.Leu11Ser) rs200673016 0.00004
NM_000388.4(CASR):c.60C>T (p.Tyr20=) rs201564143 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.*1716G>A rs969372935 0.00004
NM_006208.3(ENPP1):c.*3126C>T rs886061078 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_024529.5(CDC73):c.*1074A>T rs886045718 0.00004
NM_024529.5(CDC73):c.*1092A>G rs886045720 0.00004
NM_024529.5(CDC73):c.*2455C>T rs886045729 0.00004
NM_054027.6(ANKH):c.*309G>C rs530153364 0.00004
NM_054027.6(ANKH):c.*4982T>C rs901092803 0.00004
NM_054027.6(ANKH):c.*833T>C rs995943291 0.00004
NM_054027.6(ANKH):c.313+12G>A rs769050375 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_000388.4(CASR):c.*103A>C rs199899073 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_024529.5(CDC73):c.*2963A>G rs886045731 0.00003
NM_024529.5(CDC73):c.*2982T>C rs886045732 0.00003
NM_024529.5(CDC73):c.*463A>G rs879039427 0.00003
NM_024529.5(CDC73):c.1417+9C>T rs769784756 0.00003
NM_024529.5(CDC73):c.1418-10C>G rs768713729 0.00003
NM_054027.6(ANKH):c.*2694T>C rs886060075 0.00003
NM_054027.6(ANKH):c.*2770C>T rs563898623 0.00003
NM_054027.6(ANKH):c.*5887G>C rs1054439108 0.00003
NM_054027.6(ANKH):c.1000C>G (p.Leu334Val) rs199961741 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_000388.4(CASR):c.3168G>T (p.Val1056=) rs886057831 0.00002
NM_000388.4(CASR):c.930C>T (p.Tyr310=) rs201737357 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_024529.5(CDC73):c.*1789G>A rs1323646186 0.00002
NM_024529.5(CDC73):c.*3342G>A rs1174982740 0.00002
NM_024529.5(CDC73):c.201G>A (p.Val67=) rs752298916 0.00002
NM_054027.6(ANKH):c.*1490T>C rs776755741 0.00002
NM_054027.6(ANKH):c.*1772C>T rs775380495 0.00002
NM_054027.6(ANKH):c.*3567G>C rs144789671 0.00002
NM_054027.6(ANKH):c.*4137G>C rs886060072 0.00002
NM_054027.6(ANKH):c.*5579G>A rs1200080153 0.00002
NM_054027.6(ANKH):c.*6006A>T rs1373491504 0.00002
NM_054027.6(ANKH):c.*781T>A rs886060086 0.00002
NM_054027.6(ANKH):c.600C>T (p.Gly200=) rs140150501 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.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_000388.4(CASR):c.*1298A>G rs1470056406 0.00001
NM_000388.4(CASR):c.*625G>A rs886057833 0.00001
NM_000388.4(CASR):c.-10C>T rs753659949 0.00001
NM_000388.4(CASR):c.108G>A (p.Gly36=) rs781573002 0.00001
NM_000388.4(CASR):c.1923C>T (p.Pro641=) rs368093724 0.00001
NM_000388.4(CASR):c.2147G>A (p.Arg716His) rs201670662 0.00001
NM_000388.4(CASR):c.2255G>A (p.Arg752His) rs771529256 0.00001
NM_000388.4(CASR):c.2915C>T (p.Thr972Met) rs200620134 0.00001
NM_000388.4(CASR):c.3054C>T (p.Cys1018=) rs371038712 0.00001
NM_000388.4(CASR):c.649G>A (p.Asp217Asn) rs201091657 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.*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.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.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.457C>G (p.Pro153Ala) rs774018822 0.00001
NM_020638.3(FGF23):c.57G>A (p.Met19Ile) rs766148024 0.00001
NM_024529.4(CDC73):c.-186C>G rs886045710 0.00001
NM_024529.5(CDC73):c.*1292C>T rs895043816 0.00001
NM_024529.5(CDC73):c.*1535A>G rs1011765527 0.00001
NM_024529.5(CDC73):c.*1660A>G rs1310867519 0.00001
NM_024529.5(CDC73):c.*2651T>G rs886045730 0.00001
NM_024529.5(CDC73):c.*298A>T rs1678035186 0.00001
NM_024529.5(CDC73):c.*3714T>C rs886045737 0.00001
NM_024529.5(CDC73):c.*3783C>T rs1337028451 0.00001
NM_024529.5(CDC73):c.*3785A>G rs886045738 0.00001
NM_024529.5(CDC73):c.*3875A>G rs1678100975 0.00001
NM_024529.5(CDC73):c.*972A>G rs886045717 0.00001
NM_024529.5(CDC73):c.-121G>A rs886045711 0.00001
NM_024529.5(CDC73):c.-135C>T rs1675456932 0.00001
NM_024529.5(CDC73):c.-167A>G rs1156904196 0.00001
NM_024529.5(CDC73):c.1011C>T (p.Ala337=) rs372567546 0.00001
NM_024529.5(CDC73):c.534A>G (p.Ser178=) rs150365980 0.00001
NM_054027.6(ANKH):c.*1058C>T rs886060084 0.00001
NM_054027.6(ANKH):c.*1137A>C rs1451711728 0.00001
NM_054027.6(ANKH):c.*1451T>C rs1224951926 0.00001
NM_054027.6(ANKH):c.*1470G>A rs1161044546 0.00001
NM_054027.6(ANKH):c.*147T>A rs377727408 0.00001
NM_054027.6(ANKH):c.*1894T>C rs1017314538 0.00001
NM_054027.6(ANKH):c.*2428G>C rs886060077 0.00001
NM_054027.6(ANKH):c.*2644G>C rs886060076 0.00001
NM_054027.6(ANKH):c.*2959T>C rs919414377 0.00001
NM_054027.6(ANKH):c.*30C>T rs772604835 0.00001
NM_054027.6(ANKH):c.*3559G>C rs886060074 0.00001
NM_054027.6(ANKH):c.*5062A>G rs937136472 0.00001
NM_054027.6(ANKH):c.*5725G>T rs187007081 0.00001
NM_054027.6(ANKH):c.*5906T>C rs1423821590 0.00001
NM_054027.6(ANKH):c.*6041T>C rs886060066 0.00001
NM_054027.6(ANKH):c.*700G>A rs765103863 0.00001
NM_054027.6(ANKH):c.*96T>C rs1561015789 0.00001
NM_054027.6(ANKH):c.1071C>T (p.Ile357=) rs886060088 0.00001
NM_054027.6(ANKH):c.156C>T (p.Tyr52=) rs745669233 0.00001
NM_054027.6(ANKH):c.937G>A (p.Val313Met) rs1490930729 0.00001
NM_000376.3(VDR):c.*111C>A rs886049435
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.*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.-84+5083G>T rs527937423
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_000388.4(CASR):c.*1011T>A rs922763349
NM_000388.4(CASR):c.*640G>T rs201855028
NM_000388.4(CASR):c.*790T>C rs886057834
NM_000388.4(CASR):c.-137C>A rs201074178
NM_000388.4(CASR):c.1307C>G (p.Thr436Ser) rs1553766916
NM_000388.4(CASR):c.1665T>C (p.Ile555=) rs201955278
NM_000388.4(CASR):c.183C>T (p.Ile61=) rs2074531684
NM_000388.4(CASR):c.2549C>G (p.Ala850Gly) rs373819680
NM_000388.4(CASR):c.3234A>T (p.Ser1078=) rs556263764
NM_000444.6(PHEX):c.*250A>C rs1057515844
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.2052C>T (p.Phe684=) rs373674171
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.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_006208.3(ENPP1):c.*103A>G rs934807026
NM_006208.3(ENPP1):c.*1290T>A rs886061073
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.*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.-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.60C>T (p.Ser20=) rs763114180
NM_024529.5(CDC73):c.*1056A>C rs548106852
NM_024529.5(CDC73):c.*1075A>G rs886045719
NM_024529.5(CDC73):c.*1144del rs538761780
NM_024529.5(CDC73):c.*1144dup rs538761780
NM_024529.5(CDC73):c.*1296C>G rs1269411417
NM_024529.5(CDC73):c.*1303A>G rs886045723
NM_024529.5(CDC73):c.*1442C>T rs1678053550
NM_024529.5(CDC73):c.*1821G>T rs1678060916
NM_024529.5(CDC73):c.*1858C>G rs886045724
NM_024529.5(CDC73):c.*1956T>C rs886045725
NM_024529.5(CDC73):c.*2043A>T rs886045727
NM_024529.5(CDC73):c.*2131A>T rs886045728
NM_024529.5(CDC73):c.*244T>A rs1678034707
NM_024529.5(CDC73):c.*2639C>G rs1361287206
NM_024529.5(CDC73):c.*3086C>T rs886045733
NM_024529.5(CDC73):c.*3257A>G rs886045734
NM_024529.5(CDC73):c.*3409_*3410del rs886045735
NM_024529.5(CDC73):c.*3542A>G rs886045736
NM_024529.5(CDC73):c.*3695C>G rs1678098304
NM_024529.5(CDC73):c.*3887G>T rs1678101144
NM_024529.5(CDC73):c.*937G>A rs886045715
NM_024529.5(CDC73):c.*94A>G rs547969893
NM_024529.5(CDC73):c.*956T>C rs886045716
NM_024529.5(CDC73):c.-4dup rs545666726
NM_024529.5(CDC73):c.1324G>A (p.Val442Ile) rs1677756402
NM_024529.5(CDC73):c.156A>G (p.Arg52=) rs886045712
NM_024529.5(CDC73):c.659T>C (p.Val220Ala) rs886045713
NM_024529.5(CDC73):c.834C>T (p.Pro278=) rs886045714
NM_054027.6(ANKH):c.*1354A>G rs886060080
NM_054027.6(ANKH):c.*1370C>G rs191464917
NM_054027.6(ANKH):c.*1372C>A rs1054095058
NM_054027.6(ANKH):c.*1423G>A rs572785716
NM_054027.6(ANKH):c.*1668A>C rs886060079
NM_054027.6(ANKH):c.*1753C>T rs1329037667
NM_054027.6(ANKH):c.*256G>A rs1265113554
NM_054027.6(ANKH):c.*2674C>A rs535920930
NM_054027.6(ANKH):c.*2674C>G rs535920930
NM_054027.6(ANKH):c.*3133C>A rs1007599533
NM_054027.6(ANKH):c.*3224T>C rs999138468
NM_054027.6(ANKH):c.*3359T>G rs1736999591
NM_054027.6(ANKH):c.*3509G>C rs1006427637
NM_054027.6(ANKH):c.*3664C>T rs886060073
NM_054027.6(ANKH):c.*4610C>A rs1050130499
NM_054027.6(ANKH):c.*4704T>G rs886060071
NM_054027.6(ANKH):c.*4777C>A rs991205856
NM_054027.6(ANKH):c.*4811A>G rs1736946428
NM_054027.6(ANKH):c.*5593G>C rs886060070
NM_054027.6(ANKH):c.*5895C>G rs141264056
NM_054027.6(ANKH):c.*5898G>A rs886060069
NM_054027.6(ANKH):c.*5980C>A rs943017719
NM_054027.6(ANKH):c.*6368G>A rs1238103899
NM_054027.6(ANKH):c.*643T>C rs886060087
NM_054027.6(ANKH):c.*921A>G rs886060085
NM_054027.6(ANKH):c.-87T>A rs886060204
NM_054027.6(ANKH):c.585C>T (p.Leu195=) rs200216941
NM_054027.6(ANKH):c.897G>A (p.Val299=) rs748349350
NM_054027.6(ANKH):c.97-9C>T rs1739348689

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.