ClinVar Miner

List of variants studied for calcium metabolic disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 308
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000782.5(CYP24A1):c.234T>G (p.Gly78=) rs61755338 0.01605
NM_003052.5(SLC34A1):c.389-5C>T rs189794265 0.01364
NM_004795.4(KL):c.87C>T (p.Arg29=) rs528826951 0.00696
NM_017654.4(SAMD9):c.1347T>C (p.Asn449=) rs150107667 0.00542
NM_004795.4(KL):c.91C>T (p.Leu31=) rs540806300 0.00421
NM_003052.5(SLC34A1):c.398C>T (p.Ala133Val) rs148976897 0.00298
NM_020638.3(FGF23):c.423G>T (p.Ala141=) rs13312792 0.00290
NM_006580.4(CLDN16):c.165T>C (p.Phe55=) rs144105475 0.00208
NM_004795.4(KL):c.1371A>C (p.Ala457=) rs150268586 0.00202
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092 0.00163
NM_020638.3(FGF23):c.211+19T>C rs141828684 0.00162
NM_006580.4(CLDN16):c.532T>C (p.Leu178=) rs143316426 0.00135
NM_004069.6(AP2S1):c.75T>C (p.Asp25=) rs150080027 0.00111
NM_004795.4(KL):c.2532G>A (p.Gln844=) rs149775738 0.00111
NM_003052.5(SLC34A1):c.260-4C>A rs200580283 0.00109
NM_002067.5(GNA11):c.705C>T (p.Tyr235=) rs138168314 0.00091
NM_017654.4(SAMD9):c.3008A>G (p.Asn1003Ser) rs146087534 0.00091
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp) rs114368325 0.00079
NM_017654.4(SAMD9):c.1860A>G (p.Lys620=) rs77922936 0.00078
NM_004795.4(KL):c.2688C>T (p.Asn896=) rs145682430 0.00067
NM_000782.5(CYP24A1):c.616G>A (p.Glu206Lys) rs115260488 0.00065
NM_002067.5(GNA11):c.885C>T (p.Phe295=) rs147368872 0.00065
NM_000782.5(CYP24A1):c.378G>A (p.Pro126=) rs116104487 0.00062
NM_004795.4(KL):c.537G>C (p.Arg179=) rs769292412 0.00060
NM_003052.5(SLC34A1):c.626A>C (p.Asp209Ala) rs201109695 0.00051
NM_003052.5(SLC34A1):c.621G>A (p.Ala207=) rs137909349 0.00050
NM_020638.3(FGF23):c.342G>A (p.Arg114=) rs138972495 0.00048
NM_004069.6(AP2S1):c.261C>T (p.Phe87=) rs151335841 0.00042
NM_000782.5(CYP24A1):c.533A>G (p.Lys178Arg) rs146404747 0.00041
NM_004482.4(GALNT3):c.189G>A (p.Leu63=) rs188814778 0.00041
NM_006580.4(CLDN16):c.562T>C (p.Tyr188His) rs143097871 0.00036
NM_000388.4(CASR):c.2824G>A (p.Glu942Lys) rs76327999 0.00034
NM_004482.4(GALNT3):c.16C>T (p.Arg6Ter) rs376963628 0.00029
NM_004482.4(GALNT3):c.493G>A (p.Gly165Arg) rs147779149 0.00024
NM_000782.5(CYP24A1):c.1207G>A (p.Val403Ile) rs373243941 0.00022
NM_000782.5(CYP24A1):c.93G>A (p.Thr31=) rs151204685 0.00022
NM_004795.4(KL):c.1788C>A (p.Ser596=) rs141133607 0.00019
NM_003052.5(SLC34A1):c.1204G>C (p.Gly402Arg) rs376131751 0.00018
NM_017654.4(SAMD9):c.3403A>G (p.Ile1135Val) rs376829052 0.00018
NM_000388.4(CASR):c.27C>T (p.Val9=) rs141880581 0.00016
NM_004482.4(GALNT3):c.504T>C (p.Thr168=) rs183709224 0.00015
NM_002067.5(GNA11):c.570C>T (p.Ile190=) rs201668624 0.00014
NM_004795.4(KL):c.1764G>T (p.Met588Ile) rs543489938 0.00014
NM_004795.4(KL):c.738C>T (p.His246=) rs756551415 0.00014
NM_003052.5(SLC34A1):c.1559T>C (p.Leu520Pro) rs201728701 0.00013
NM_003052.5(SLC34A1):c.741C>A (p.Ile247=) rs374121143 0.00013
NM_004482.4(GALNT3):c.516-2A>T rs761396172 0.00013
NM_004482.4(GALNT3):c.718G>C (p.Val240Leu) rs146978168 0.00013
NM_002067.5(GNA11):c.501C>T (p.Ile167=) rs756722832 0.00012
NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=) rs148575220 0.00012
NM_004795.4(KL):c.1882C>T (p.Arg628Cys) rs200940225 0.00012
NM_006580.4(CLDN16):c.628G>A (p.Ala210Thr) rs549642537 0.00012
NM_000388.4(CASR):c.854G>A (p.Arg285Gln) rs200039241 0.00011
NM_000782.5(CYP24A1):c.753G>A (p.Arg251=) rs377533549 0.00011
NM_002067.5(GNA11):c.476+13G>A rs371755659 0.00011
NM_004482.4(GALNT3):c.1194A>G (p.Val398=) rs150937941 0.00011
NM_004795.4(KL):c.1858C>T (p.Arg620Cys) rs34292549 0.00011
NM_004795.4(KL):c.2502C>T (p.Thr834=) rs147748913 0.00011
NM_004795.4(KL):c.2682C>T (p.Tyr894=) rs144132270 0.00011
NM_003052.5(SLC34A1):c.1485C>A (p.Arg495=) rs768939354 0.00010
NM_000388.4(CASR):c.1510G>A (p.Val504Met) rs201536450 0.00009
NM_000388.4(CASR):c.1788C>T (p.Thr596=) rs142778221 0.00009
NM_000388.4(CASR):c.2844G>A (p.Leu948=) rs140586950 0.00009
NM_000782.5(CYP24A1):c.733-9T>C rs895309596 0.00009
NM_002067.5(GNA11):c.240C>T (p.Tyr80=) rs145033220 0.00009
NM_003052.5(SLC34A1):c.510C>T (p.Ile170=) rs552176812 0.00009
NM_003052.5(SLC34A1):c.653C>T (p.Ala218Val) rs141770901 0.00009
NM_004795.4(KL):c.2862G>A (p.Pro954=) rs387907447 0.00009
NM_000782.5(CYP24A1):c.598G>A (p.Val200Ile) rs770028088 0.00008
NM_002067.5(GNA11):c.889+14C>T rs369371015 0.00008
NM_003052.5(SLC34A1):c.1690C>T (p.Arg564Trp) rs146096892 0.00008
NM_000388.4(CASR):c.3013G>A (p.Asp1005Asn) rs201990892 0.00007
NM_000388.4(CASR):c.825T>C (p.Asp275=) rs199836910 0.00007
NM_002067.5(GNA11):c.489C>T (p.Asp163=) rs141926949 0.00007
NM_004482.4(GALNT3):c.1534G>A (p.Val512Ile) rs374713815 0.00007
NM_004795.4(KL):c.2069C>T (p.Pro690Leu) rs146275953 0.00007
NM_004795.4(KL):c.2251A>G (p.Arg751Gly) rs373177691 0.00007
NM_020638.3(FGF23):c.559C>G (p.Arg187Gly) rs190841442 0.00007
NM_000388.4(CASR):c.1554A>G (p.Gly518=) rs138099808 0.00006
NM_000388.4(CASR):c.2209G>A (p.Val737Ile) rs200318708 0.00006
NM_000782.5(CYP24A1):c.101C>T (p.Thr34Met) rs550482750 0.00006
NM_000782.5(CYP24A1):c.1083T>C (p.Pro361=) rs147886742 0.00006
NM_000782.5(CYP24A1):c.1187G>A (p.Arg396Gln) rs143934667 0.00006
NM_000782.5(CYP24A1):c.296T>C (p.Met99Thr) rs748676671 0.00006
NM_000782.5(CYP24A1):c.425A>G (p.Lys142Arg) rs760244872 0.00006
NM_000782.5(CYP24A1):c.73C>G (p.Pro25Ala) rs140851407 0.00006
NM_002067.5(GNA11):c.605+10G>A rs535105766 0.00006
NM_003052.5(SLC34A1):c.1912C>T (p.Arg638Cys) rs387907503 0.00006
NM_003052.5(SLC34A1):c.420C>T (p.Asn140=) rs200188041 0.00006
NM_004482.4(GALNT3):c.147A>C (p.Glu49Asp) rs756068998 0.00006
NM_004482.4(GALNT3):c.1524+5G>A rs375879489 0.00006
NM_004482.4(GALNT3):c.851A>G (p.Tyr284Cys) rs539221514 0.00006
NM_004795.4(KL):c.2557C>T (p.Arg853Cys) rs147992424 0.00006
NM_020638.3(FGF23):c.88C>T (p.Pro30Ser) rs758725402 0.00006
NM_000388.4(CASR):c.779A>G (p.Gln260Arg) rs200386687 0.00005
NM_002067.5(GNA11):c.287C>T (p.Thr96Met) rs756991534 0.00005
NM_002067.5(GNA11):c.322-5C>T rs773020890 0.00005
NM_003052.5(SLC34A1):c.1443C>T (p.Asn481=) rs137867155 0.00005
NM_003052.5(SLC34A1):c.625G>T (p.Asp209Tyr) rs199847351 0.00005
NM_000388.4(CASR):c.1913G>A (p.Arg638His) rs201852643 0.00004
NM_000388.4(CASR):c.308C>T (p.Thr103Ile) rs199734455 0.00004
NM_000388.4(CASR):c.3220A>G (p.Asn1074Asp) rs775066593 0.00004
NM_000388.4(CASR):c.32T>C (p.Leu11Ser) rs200673016 0.00004
NM_000782.5(CYP24A1):c.1219T>A (p.Tyr407Asn) rs140189382 0.00004
NM_002067.5(GNA11):c.889+4C>T rs375701661 0.00004
NM_002067.5(GNA11):c.912G>A (p.Ala304=) rs145170690 0.00004
NM_002067.5(GNA11):c.915G>A (p.Ala305=) rs750757769 0.00004
NM_003052.5(SLC34A1):c.1698C>T (p.Pro566=) rs377213972 0.00004
NM_003052.5(SLC34A1):c.72G>T (p.Met24Ile) rs146812061 0.00004
NM_003052.5(SLC34A1):c.73C>T (p.Arg25Ter) rs200893951 0.00004
NM_004069.6(AP2S1):c.111C>T (p.Ala37=) rs368988346 0.00004
NM_004069.6(AP2S1):c.153+5C>T rs747850028 0.00004
NM_004069.6(AP2S1):c.387G>A (p.Thr129=) rs762267195 0.00004
NM_004482.4(GALNT3):c.1253G>A (p.Arg418His) rs143396063 0.00004
NM_004482.4(GALNT3):c.1348A>G (p.Ile450Val) rs146096050 0.00004
NM_004482.4(GALNT3):c.985G>A (p.Gly329Arg) rs1204063782 0.00004
NM_004795.4(KL):c.2057C>T (p.Thr686Met) rs141695559 0.00004
NM_004795.4(KL):c.2513G>C (p.Trp838Ser) rs199812311 0.00004
NM_004795.4(KL):c.398T>A (p.Phe133Tyr) rs749356037 0.00004
NM_004795.4(KL):c.560C>T (p.Pro187Leu) rs761695698 0.00004
NM_020638.3(FGF23):c.636C>A (p.Ser212Arg) rs749770315 0.00004
NM_000388.4(CASR):c.1144G>A (p.Asp382Asn) rs199980578 0.00003
NM_000388.4(CASR):c.1463A>G (p.Asn488Ser) rs146739893 0.00003
NM_000388.4(CASR):c.2693G>A (p.Arg898Gln) rs121909269 0.00003
NM_000388.4(CASR):c.3118C>G (p.Gln1040Glu) rs1007139212 0.00003
NM_000782.5(CYP24A1):c.439C>T (p.Leu147=) rs774042537 0.00003
NM_002067.5(GNA11):c.462C>T (p.Ser154=) rs200449144 0.00003
NM_002067.5(GNA11):c.889+7C>T rs201814380 0.00003
NM_003052.5(SLC34A1):c.294C>T (p.Gly98=) rs767269039 0.00003
NM_004795.4(KL):c.1005T>C (p.Gly335=) rs749183356 0.00003
NM_004795.4(KL):c.292C>T (p.Leu98=) rs762177521 0.00003
NM_020638.3(FGF23):c.64C>T (p.Leu22Phe) rs376694108 0.00003
NM_000388.4(CASR):c.1377+17T>C rs200650843 0.00002
NM_000388.4(CASR):c.2161C>T (p.Leu721Phe) rs942603230 0.00002
NM_000388.4(CASR):c.220A>C (p.Met74Leu) rs745377913 0.00002
NM_000388.4(CASR):c.2570T>C (p.Ile857Thr) rs766445416 0.00002
NM_000388.4(CASR):c.2638G>T (p.Ala880Ser) rs763865303 0.00002
NM_000388.4(CASR):c.2669G>A (p.Arg890His) rs567996888 0.00002
NM_000388.4(CASR):c.2687G>A (p.Arg896His) rs773552397 0.00002
NM_000388.4(CASR):c.675A>G (p.Lys225=) rs202226622 0.00002
NM_000388.4(CASR):c.909C>G (p.Ser303=) rs375005541 0.00002
NM_000782.5(CYP24A1):c.1396C>T (p.Arg466Ter) rs988715134 0.00002
NM_002067.5(GNA11):c.592A>C (p.Asn198His) rs768371546 0.00002
NM_002067.5(GNA11):c.605+5C>T rs759838121 0.00002
NM_004482.4(GALNT3):c.892del (p.Tyr298fs) rs762936774 0.00002
NM_004795.4(KL):c.1780C>T (p.Arg594Cys) rs138511256 0.00002
NM_004795.4(KL):c.2811C>T (p.Pro937=) rs751273061 0.00002
NM_004795.4(KL):c.497A>G (p.Asn166Ser) rs387907444 0.00002
NM_004795.4(KL):c.944A>G (p.Glu315Gly) rs759972130 0.00002
NM_006580.4(CLDN16):c.22A>G (p.Ile8Val) rs145118503 0.00002
NM_020638.3(FGF23):c.46G>A (p.Val16Ile) rs760118094 0.00002
NM_000388.4(CASR):c.1091C>A (p.Ala364Glu) rs200771541 0.00001
NM_000388.4(CASR):c.1140T>A (p.Ser380Arg) rs145869851 0.00001
NM_000388.4(CASR):c.1149G>C (p.Arg383Ser) rs148573275 0.00001
NM_000388.4(CASR):c.1163C>T (p.Ser388Leu) rs377282860 0.00001
NM_000388.4(CASR):c.118A>G (p.Ile40Val) rs1458833527 0.00001
NM_000388.4(CASR):c.1193A>G (p.Asp398Gly) rs202101164 0.00001
NM_000388.4(CASR):c.1283C>T (p.Ala428Val) rs895543540 0.00001
NM_000388.4(CASR):c.1297G>C (p.Asp433His) rs199511990 0.00001
NM_000388.4(CASR):c.1452C>T (p.Asp484=) rs776775141 0.00001
NM_000388.4(CASR):c.1478A>G (p.Asn493Ser) rs140347078 0.00001
NM_000388.4(CASR):c.166G>T (p.Glu56Ter) rs1358793834 0.00001
NM_000388.4(CASR):c.1843G>A (p.Ala615Thr) rs768660050 0.00001
NM_000388.4(CASR):c.1887T>C (p.Phe629=) rs750220557 0.00001
NM_000388.4(CASR):c.1912C>T (p.Arg638Cys) rs1185593894 0.00001
NM_000388.4(CASR):c.2012A>T (p.Glu671Val) rs199957040 0.00001
NM_000388.4(CASR):c.2027C>G (p.Thr676Arg) rs768204447 0.00001
NM_000388.4(CASR):c.2039G>A (p.Arg680His) rs773146939 0.00001
NM_000388.4(CASR):c.2046G>A (p.Pro682=) rs760450976 0.00001
NM_000388.4(CASR):c.2139C>T (p.Ser713=) rs200384325 0.00001
NM_000388.4(CASR):c.2147G>A (p.Arg716His) rs201670662 0.00001
NM_000388.4(CASR):c.2216G>A (p.Cys739Tyr) rs375468610 0.00001
NM_000388.4(CASR):c.232A>G (p.Ile78Val) rs769294626 0.00001
NM_000388.4(CASR):c.2405A>G (p.Asn802Ser) rs140022350 0.00001
NM_000388.4(CASR):c.2437A>G (p.Ile813Val) rs746541034 0.00001
NM_000388.4(CASR):c.2551T>A (p.Cys851Ser) rs200777304 0.00001
NM_000388.4(CASR):c.2677A>G (p.Asn893Asp) rs1392921552 0.00001
NM_000388.4(CASR):c.2680G>A (p.Val894Ile) rs200883282 0.00001
NM_000388.4(CASR):c.2819A>C (p.Gln940Pro) rs1293909274 0.00001
NM_000388.4(CASR):c.2994G>A (p.Leu998=) rs200260696 0.00001
NM_000388.4(CASR):c.3018G>A (p.Thr1006=) rs748637478 0.00001
NM_000388.4(CASR):c.3197G>A (p.Gly1066Asp) rs769439564 0.00001
NM_000388.4(CASR):c.40A>G (p.Thr14Ala) rs199515839 0.00001
NM_000388.4(CASR):c.537A>G (p.Gln179=) rs200129212 0.00001
NM_000388.4(CASR):c.53C>T (p.Ser18Phe) rs749748004 0.00001
NM_000388.4(CASR):c.614G>A (p.Arg205His) rs763162046 0.00001
NM_000388.4(CASR):c.649G>A (p.Asp217Asn) rs201091657 0.00001
NM_000388.4(CASR):c.738C>T (p.Tyr246=) rs895337411 0.00001
NM_000388.4(CASR):c.813C>A (p.Ser271=) rs759939185 0.00001
NM_000388.4(CASR):c.857G>A (p.Arg286His) rs922511747 0.00001
NM_000388.4(CASR):c.946G>A (p.Gly316Ser) rs755997016 0.00001
NM_000388.4(CASR):c.98T>G (p.Ile33Ser) rs758232331 0.00001
NM_000782.5(CYP24A1):c.172C>T (p.Leu58=) rs761949738 0.00001
NM_000782.5(CYP24A1):c.175C>T (p.Pro59Ser) rs776627911 0.00001
NM_000782.5(CYP24A1):c.577C>A (p.Leu193Ile) rs377696502 0.00001
NM_000782.5(CYP24A1):c.776T>C (p.Leu259Pro) rs373902459 0.00001
NM_000782.5(CYP24A1):c.815C>G (p.Thr272Ser) rs1413437455 0.00001
NM_000782.5(CYP24A1):c.904C>T (p.Leu302Phe) rs1238041646 0.00001
NM_002067.5(GNA11):c.138C>T (p.Gly46=) rs776843648 0.00001
NM_002067.5(GNA11):c.477-12G>A rs766787225 0.00001
NM_002067.5(GNA11):c.606-6T>C rs371052478 0.00001
NM_002067.5(GNA11):c.805G>A (p.Val269Ile) rs144829732 0.00001
NM_002067.5(GNA11):c.987G>A (p.Thr329=) rs375856122 0.00001
NM_003052.5(SLC34A1):c.1039G>C (p.Asp347His) rs750711955 0.00001
NM_003052.5(SLC34A1):c.1418T>C (p.Ile473Thr) rs184668287 0.00001
NM_003052.5(SLC34A1):c.1466A>G (p.Tyr489Cys) rs756685605 0.00001
NM_003052.5(SLC34A1):c.1624G>A (p.Val542Ile) rs758639329 0.00001
NM_003052.5(SLC34A1):c.536T>C (p.Leu179Pro) rs142772770 0.00001
NM_003052.5(SLC34A1):c.645G>A (p.Arg215=) rs753903046 0.00001
NM_003052.5(SLC34A1):c.745C>T (p.Arg249Ter) rs1426432774 0.00001
NM_003052.5(SLC34A1):c.94G>A (p.Val32Met) rs778803636 0.00001
NM_004482.4(GALNT3):c.166A>T (p.Met56Leu) rs779573886 0.00001
NM_004482.4(GALNT3):c.803dup (p.Thr269fs) rs766750282 0.00001
NM_004795.4(KL):c.1331-3C>A rs748430461 0.00001
NM_004795.4(KL):c.1811C>A (p.Pro604His) rs751229348 0.00001
NM_004795.4(KL):c.254A>G (p.Lys85Arg) rs1190809246 0.00001
NM_004795.4(KL):c.257G>A (p.Gly86Asp) rs1477759912 0.00001
NM_004795.4(KL):c.2684T>C (p.Ile895Thr) rs387907441 0.00001
NM_004795.4(KL):c.486G>A (p.Ala162=) rs371131557 0.00001
NM_004795.4(KL):c.535C>T (p.Arg179Trp) rs746435085 0.00001
NM_006580.4(CLDN16):c.106T>C (p.Ser36Pro) rs761873372 0.00001
NM_020638.3(FGF23):c.51C>T (p.Cys17=) rs752187740 0.00001
GRCh37/hg19 12p13.32(chr12:4477393-4488878)
GRCh37/hg19 20q13.2(chr20:52769985-52790525)
GRCh37/hg19 5q35.3(chr5:176812675-176813587)
NM_000388.4(CASR):c.1116C>T (p.Thr372=) rs539867627
NM_000388.4(CASR):c.1132G>A (p.Glu378Lys) rs201338034
NM_000388.4(CASR):c.1163C>G (p.Ser388Trp) rs377282860
NM_000388.4(CASR):c.1164G>A (p.Ser388=) rs200898785
NM_000388.4(CASR):c.1287C>A (p.His429Gln) rs746515147
NM_000388.4(CASR):c.130G>A (p.Val44Ile) rs2074530467
NM_000388.4(CASR):c.1354A>G (p.Ile452Val) rs756206452
NM_000388.4(CASR):c.1390C>G (p.Leu464Val) rs778165189
NM_000388.4(CASR):c.1425G>T (p.Glu475Asp) rs2107643445
NM_000388.4(CASR):c.1498G>A (p.Asp500Asn) rs1156349993
NM_000388.4(CASR):c.1622A>G (p.Asn541Ser) rs201202700
NM_000388.4(CASR):c.1820C>T (p.Ser607Leu) rs1052956823
NM_000388.4(CASR):c.1842C>G (p.Ile614Met) rs199513106
NM_000388.4(CASR):c.1853T>G (p.Leu618Arg) rs2107649522
NM_000388.4(CASR):c.2056A>G (p.Ile686Val) rs753013993
NM_000388.4(CASR):c.2099A>G (p.Asn700Ser) rs1576877437
NM_000388.4(CASR):c.2101C>A (p.Arg701Ser) rs757302986
NM_000388.4(CASR):c.2213T>C (p.Ile738Thr) rs759337909
NM_000388.4(CASR):c.2339C>G (p.Thr780Ser) rs754332943
NM_000388.4(CASR):c.2339C>T (p.Thr780Ile) rs754332943
NM_000388.4(CASR):c.2439C>T (p.Ile813=) rs1228810304
NM_000388.4(CASR):c.2449G>A (p.Val817Ile) rs1057518933
NM_000388.4(CASR):c.2503G>A (p.Ala835Thr) rs2074939751
NM_000388.4(CASR):c.2506G>T (p.Val836Leu) rs2107650629
NM_000388.4(CASR):c.2549C>G (p.Ala850Gly) rs373819680
NM_000388.4(CASR):c.2686C>T (p.Arg896Cys) rs749125441
NM_000388.4(CASR):c.2804_2836dup (p.Pro935_Gln945dup) rs2074946020
NM_000388.4(CASR):c.2980C>T (p.His994Tyr) rs1559969980
NM_000388.4(CASR):c.3234A>G (p.Ser1078=) rs556263764
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) rs104893708
NM_000388.4(CASR):c.379G>A (p.Glu127Lys) rs2074565202
NM_000388.4(CASR):c.380A>C (p.Glu127Ala) rs121909260
NM_000388.4(CASR):c.413C>T (p.Thr138Met) rs121909263
NM_000388.4(CASR):c.493-12G>T rs199514129
NM_000388.4(CASR):c.54T>G (p.Ser18=) rs558522564
NM_000388.4(CASR):c.554G>A (p.Arg185Gln) rs104893689
NM_000388.4(CASR):c.653A>G (p.Tyr218Cys) rs2074624616
NM_000388.4(CASR):c.658C>T (p.Arg220Trp) rs1482119762
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) rs397514728
NM_000388.4(CASR):c.679C>T (p.Arg227Ter) rs1085307984
NM_000388.4(CASR):c.680G>A (p.Arg227Gln) rs28936684
NM_000388.4(CASR):c.788C>T (p.Thr263Met) rs201456938
NM_000388.4(CASR):c.856C>T (p.Arg286Cys) rs1060502843
NM_000388.4(CASR):c.865A>G (p.Thr289Ala) rs1559959294
NM_000388.4(CASR):c.876C>T (p.Ile292=) rs772232871
NM_000782.5(CYP24A1):c.1103C>A (p.Ala368Glu) rs1227845728
NM_000782.5(CYP24A1):c.114G>T (p.Pro38=) rs61749689
NM_000782.5(CYP24A1):c.469C>A (p.Arg157=) rs35873579
NM_000782.5(CYP24A1):c.469C>T (p.Arg157Trp) rs35873579
NM_000782.5(CYP24A1):c.62del (p.Pro21fs) rs774432244
NM_002067.5(GNA11):c.178C>T (p.Arg60Cys) rs587777021
NM_002067.5(GNA11):c.322-10G>A rs368874580
NM_002067.5(GNA11):c.889+5G>A rs768590899
NM_003052.5(SLC34A1):c.1038G>T (p.Pro346=) rs73336286
NM_003052.5(SLC34A1):c.1209C>T (p.Tyr403=) rs1581648732
NM_003052.5(SLC34A1):c.1227C>A (p.Gly409=) rs145542852
NM_003052.5(SLC34A1):c.1243G>A (p.Val415Met) rs765774780
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del) rs876661296
NM_003052.5(SLC34A1):c.409_411del (p.Phe137del) rs758233945
NM_003052.5(SLC34A1):c.458G>T (p.Gly153Val) rs769409705
NM_003052.5(SLC34A1):c.580G>A (p.Gly194Ser) rs370983881
NM_004069.6(AP2S1):c.4-14_4-12del rs373163721
NM_004069.6(AP2S1):c.43C>T (p.Arg15Cys) rs397514498
NM_004482.4(GALNT3):c.1626+1G>A rs760830864
NM_004482.4(GALNT3):c.1626+6C>T rs774391241
NM_004482.4(GALNT3):c.897G>T (p.Thr299=) rs75931918
NM_004795.4(KL):c.1462TTG[1] (p.Leu489del) rs777919048
NM_004795.4(KL):c.2296G>C (p.Gly766Arg) rs114752661
NM_004795.4(KL):c.4C>T (p.Pro2Ser) rs1425467064
NM_004795.4(KL):c.721dup (p.Tyr241fs) rs2138184030
NM_006580.4(CLDN16):c.-45del rs368234054
NM_006580.4(CLDN16):c.335_338dup (p.Lys113delinsAsnTer) rs1253995767
NM_006580.4(CLDN16):c.383G>A (p.Gly128Asp) rs104893723
NM_006580.4(CLDN16):c.487G>T (p.Gly163Cys) rs1577432872
NM_017654.4(SAMD9):c.1812A>G (p.Gln604=) rs181767582
NM_017654.4(SAMD9):c.29del (p.Asn10fs) rs1356051307
NM_017654.4(SAMD9):c.3651dup (p.Asp1218Ter) rs199887936
NM_020638.3(FGF23):c.313T>A (p.Ser105Thr) rs1865075955
NM_020638.3(FGF23):c.315+15del rs771309899
NM_020638.3(FGF23):c.536G>A (p.Arg179Gln) rs193922702
NM_020638.3(FGF23):c.555G>A (p.Ser185=) rs115283398
NM_020638.3(FGF23):c.555G>C (p.Ser185=) rs115283398
NM_020638.3(FGF23):c.686G>A (p.Gly229Asp) rs1033823201

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