ClinVar Miner

List of variants reported as uncertain significance for rickets by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 134
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HGVS dbSNP gnomAD frequency
NM_004407.4(DMP1):c.815G>A (p.Arg272His) rs145237146 0.00202
NM_001177316.2(SLC34A3):c.756G>A (p.Gln252=) rs121918239 0.00149
NM_024514.5(CYP2R1):c.467C>G (p.Ser156Cys) rs140947977 0.00081
NM_001177316.2(SLC34A3):c.1727G>T (p.Ser576Ile) rs200090657 0.00064
NM_001177316.2(SLC34A3):c.919C>A (p.Leu307Met) rs202109348 0.00064
NM_000785.4(CYP27B1):c.1057C>G (p.Pro353Ala) rs151335249 0.00061
NM_001177316.2(SLC34A3):c.1453C>T (p.Arg485Cys) rs145029982 0.00052
NM_004407.4(DMP1):c.1255C>T (p.Pro419Ser) rs140275311 0.00036
NM_000376.3(VDR):c.1016T>C (p.Val339Ala) rs187843998 0.00035
NM_004407.4(DMP1):c.*159T>A rs865870083 0.00030
NM_006208.3(ENPP1):c.2330A>G (p.His777Arg) rs147346173 0.00028
NM_001177316.2(SLC34A3):c.1765G>A (p.Glu589Lys) rs376700316 0.00027
NM_001177316.2(SLC34A3):c.799A>C (p.Thr267Pro) rs145899150 0.00027
NM_004407.4(DMP1):c.1502T>C (p.Ile501Thr) rs146762807 0.00026
NM_001177316.2(SLC34A3):c.781A>G (p.Ser261Gly) rs201964796 0.00024
NM_000785.4(CYP27B1):c.40C>T (p.Arg14Cys) rs150648140 0.00023
NM_006208.3(ENPP1):c.*128C>T rs371896132 0.00021
NM_001127898.4(CLCN5):c.1297G>A (p.Val433Met) rs140514551 0.00020
NM_000785.4(CYP27B1):c.541G>T (p.Ala181Ser) rs368126466 0.00019
NM_001177316.2(SLC34A3):c.1612C>T (p.Arg538Trp) rs140319849 0.00017
NM_001177316.2(SLC34A3):c.688A>C (p.Thr230Pro) rs200507464 0.00017
NM_006208.3(ENPP1):c.614C>A (p.Ala205Glu) rs145868241 0.00017
NM_001127898.4(CLCN5):c.926G>A (p.Arg309His) rs147798092 0.00015
NM_000376.3(VDR):c.889G>A (p.Val297Ile) rs144756403 0.00014
NM_004407.4(DMP1):c.428C>T (p.Thr143Ile) rs370153862 0.00014
NM_024514.5(CYP2R1):c.851T>C (p.Met284Thr) rs200183599 0.00014
NM_006208.3(ENPP1):c.1798T>C (p.Tyr600His) rs199890118 0.00012
NM_001127898.4(CLCN5):c.1635G>T (p.Gln545His) rs148124447 0.00011
NM_001177316.2(SLC34A3):c.1069G>A (p.Val357Ile) rs557760566 0.00011
NM_001177316.2(SLC34A3):c.232G>A (p.Gly78Arg) rs756241784 0.00011
NM_001177316.2(SLC34A3):c.995T>C (p.Leu332Pro) rs765668692 0.00011
NM_001177316.2(SLC34A3):c.1606C>T (p.Arg536Trp) rs142206230 0.00009
NM_004407.4(DMP1):c.517C>T (p.Arg173Trp) rs200549155 0.00009
NM_006208.3(ENPP1):c.1699A>G (p.Ile567Val) rs750660271 0.00008
NM_001127898.4(CLCN5):c.2305G>A (p.Val769Ile) rs201962580 0.00007
NM_001177316.2(SLC34A3):c.1415C>T (p.Pro472Leu) rs750347570 0.00007
NM_001177316.2(SLC34A3):c.1639C>T (p.Arg547Cys) rs753910973 0.00007
NM_006208.3(ENPP1):c.1352A>G (p.Tyr451Cys) rs201519006 0.00007
NM_020638.3(FGF23):c.559C>G (p.Arg187Gly) rs190841442 0.00007
NM_024514.5(CYP2R1):c.352A>G (p.Met118Val) rs375085420 0.00007
NM_001177316.2(SLC34A3):c.1609C>T (p.Arg537Cys) rs781443814 0.00006
NM_001177316.2(SLC34A3):c.1753G>A (p.Ala585Thr) rs939469698 0.00006
NM_001177316.2(SLC34A3):c.704C>T (p.Ala235Val) rs756672024 0.00006
NM_006208.3(ENPP1):c.626C>T (p.Thr209Met) rs187764662 0.00006
NM_006208.3(ENPP1):c.685G>A (p.Gly229Ser) rs147798392 0.00006
NM_020638.3(FGF23):c.88C>T (p.Pro30Ser) rs758725402 0.00006
NM_024514.5(CYP2R1):c.995T>C (p.Ile332Thr) rs368317393 0.00006
NM_000376.3(VDR):c.199C>T (p.Arg67Cys) rs369248365 0.00005
NM_001127898.4(CLCN5):c.2198C>T (p.Thr733Met) rs781924436 0.00005
NM_001177316.2(SLC34A3):c.1060G>A (p.Val354Met) rs534880363 0.00005
NM_001177316.2(SLC34A3):c.1072G>A (p.Val358Met) rs770332251 0.00005
NM_001177316.2(SLC34A3):c.1135G>A (p.Val379Ile) rs368525218 0.00005
NM_006208.3(ENPP1):c.2380G>A (p.Val794Ile) rs201757026 0.00005
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_000785.4(CYP27B1):c.41G>A (p.Arg14His) rs372223837 0.00004
NM_000785.4(CYP27B1):c.511C>T (p.Arg171Cys) rs535463729 0.00004
NM_001127898.4(CLCN5):c.2201A>C (p.Glu734Ala) rs147378499 0.00004
NM_001127898.4(CLCN5):c.448C>A (p.His150Asn) rs782412118 0.00004
NM_001177316.2(SLC34A3):c.1444G>A (p.Ala482Thr) rs757308975 0.00004
NM_001177316.2(SLC34A3):c.328A>G (p.Lys110Glu) rs570711066 0.00004
NM_001177316.2(SLC34A3):c.605C>T (p.Thr202Ile) rs868077426 0.00004
NM_006208.3(ENPP1):c.2633T>C (p.Val878Ala) rs754251347 0.00004
NM_020638.3(FGF23):c.636C>A (p.Ser212Arg) rs749770315 0.00004
NM_024514.5(CYP2R1):c.421G>A (p.Val141Ile) rs782437679 0.00004
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.781G>A (p.Val261Ile) rs746214307 0.00003
NM_001177316.2(SLC34A3):c.1432G>A (p.Gly478Arg) rs758689905 0.00003
NM_001177316.2(SLC34A3):c.458T>C (p.Val153Ala) rs139302994 0.00003
NM_001177316.2(SLC34A3):c.561-8G>A rs756580408 0.00003
NM_006208.3(ENPP1):c.2089G>A (p.Val697Met) rs762065573 0.00003
NM_020638.3(FGF23):c.64C>T (p.Leu22Phe) rs376694108 0.00003
NM_000376.3(VDR):c.1045G>A (p.Ala349Thr) rs774910763 0.00002
NM_000444.6(PHEX):c.1655C>T (p.Ala552Val) rs773244112 0.00002
NM_001127898.4(CLCN5):c.1537A>G (p.Ile513Val) rs1210108844 0.00002
NM_001127898.4(CLCN5):c.2188A>G (p.Ile730Val) rs782088515 0.00002
NM_001127898.4(CLCN5):c.2342G>C (p.Cys781Ser) rs946613180 0.00002
NM_001177316.2(SLC34A3):c.1324A>G (p.Ser442Gly) rs773903138 0.00002
NM_001177316.2(SLC34A3):c.140T>A (p.Leu47His) rs757815865 0.00002
NM_001177316.2(SLC34A3):c.1505C>T (p.Ala502Val) rs571107918 0.00002
NM_001177316.2(SLC34A3):c.383T>A (p.Val128Asp) rs759826596 0.00002
NM_001177316.2(SLC34A3):c.988G>A (p.Gly330Ser) rs369211663 0.00002
NM_020638.3(FGF23):c.46G>A (p.Val16Ile) rs760118094 0.00002
NM_024514.5(CYP2R1):c.1166T>A (p.Val389Glu) rs782535484 0.00002
NM_024514.5(CYP2R1):c.1364G>A (p.Arg455Gln) rs781875625 0.00002
NM_024514.5(CYP2R1):c.852G>A (p.Met284Ile) rs782503732 0.00002
NM_000376.3(VDR):c.257A>G (p.Asp86Gly) rs534768058 0.00001
NM_000376.3(VDR):c.311G>A (p.Arg104Gln) rs749763626 0.00001
NM_000444.6(PHEX):c.1876T>C (p.Tyr626His) rs1036644594 0.00001
NM_000444.6(PHEX):c.226C>G (p.Pro76Ala) rs201394441 0.00001
NM_001177316.2(SLC34A3):c.1057C>T (p.Arg353Cys) rs750292913 0.00001
NM_001177316.2(SLC34A3):c.1063G>A (p.Ala355Thr) rs138702939 0.00001
NM_001177316.2(SLC34A3):c.1183T>C (p.Phe395Leu) rs560440785 0.00001
NM_001177316.2(SLC34A3):c.1234C>T (p.Arg412Trp) rs373242362 0.00001
NM_001177316.2(SLC34A3):c.1238C>T (p.Ala413Val) rs121918235 0.00001
NM_001177316.2(SLC34A3):c.1252C>G (p.Leu418Val) rs778500281 0.00001
NM_001177316.2(SLC34A3):c.1517T>A (p.Leu506His) rs1017557592 0.00001
NM_001177316.2(SLC34A3):c.1783G>A (p.Ala595Thr) rs748004842 0.00001
NM_001177316.2(SLC34A3):c.547G>A (p.Asp183Asn) rs750369891 0.00001
NM_001177316.2(SLC34A3):c.682A>G (p.Ser228Gly) rs766506036 0.00001
NM_001177316.2(SLC34A3):c.868G>A (p.Gly290Ser) rs758514484 0.00001
NM_004407.4(DMP1):c.1408G>A (p.Glu470Lys) rs369921592 0.00001
NM_004407.4(DMP1):c.1490A>T (p.His497Leu) rs376245118 0.00001
NM_004407.4(DMP1):c.709A>G (p.Met237Val) rs201413886 0.00001
NM_006208.3(ENPP1):c.595A>G (p.Asn199Asp) rs766617922 0.00001
NM_024514.5(CYP2R1):c.950A>G (p.Asn317Ser) rs147626987 0.00001
NM_000376.3(VDR):c.565C>A (p.His189Asn) rs778063507
NM_000376.3(VDR):c.86A>G (p.Asp29Gly) rs1280836121
NM_000785.4(CYP27B1):c.454G>A (p.Ala152Thr) rs777612495
NM_000785.4(CYP27B1):c.974C>T (p.Thr325Met) rs762118198
NM_001177316.2(SLC34A3):c.1142C>A (p.Ala381Glu) rs374826755
NM_001177316.2(SLC34A3):c.1187C>T (p.Thr396Met) rs138798032
NM_001177316.2(SLC34A3):c.1198G>A (p.Val400Met) rs748862410
NM_001177316.2(SLC34A3):c.1208T>G (p.Met403Arg) rs532292902
NM_001177316.2(SLC34A3):c.1351TTC[2] (p.Phe453del) rs761662543
NM_001177316.2(SLC34A3):c.1462G>C (p.Ala488Pro) rs149389629
NM_001177316.2(SLC34A3):c.195_215dup (p.Arg65_Gly71dup) rs532224704
NM_001177316.2(SLC34A3):c.449-14C>A rs545767491
NM_001177316.2(SLC34A3):c.449-9C>G rs377306924
NM_001177316.2(SLC34A3):c.496G>C (p.Gly166Arg) rs200536604
NM_001177316.2(SLC34A3):c.544C>T (p.Arg182Trp) rs199747826
NM_001177316.2(SLC34A3):c.751G>C (p.Val251Leu) rs776182012
NM_001177316.2(SLC34A3):c.891GAA[1] (p.Lys298del) rs775037904
NM_001177316.2(SLC34A3):c.956C>T (p.Thr319Met) rs769622295
NM_004407.4(DMP1):c.1534G>A (p.Gly512Ser) rs377414504
NM_004407.4(DMP1):c.1538A>G (p.Tyr513Cys) rs1264750963
NM_006208.3(ENPP1):c.1437+3_1437+6del rs747843796
NM_006208.3(ENPP1):c.2236A>C (p.Asn746His) rs144099489
NM_006208.3(ENPP1):c.2252G>A (p.Gly751Glu) rs1195604374
NM_020638.3(FGF23):c.313T>A (p.Ser105Thr) rs1865075955
NM_020638.3(FGF23):c.686G>A (p.Gly229Asp) rs1033823201
NM_024514.5(CYP2R1):c.1348G>C (p.Gly450Arg) rs1565176051

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