ClinVar Miner

List of variants studied for parathyroid gland disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 408
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000388.4(CASR):c.*574C>G rs6438718 0.96802
NM_001001433.3(STX16):c.*1785A>G rs6128397 0.60588
NM_000388.4(CASR):c.*1198T>C rs10190 0.54750
NM_000315.4(PTH):c.-5-10G>A rs694 0.50325
NM_001001433.3(STX16):c.*2057G>A rs7683 0.42733
NM_001370259.2(MEN1):c.1254C>T (p.Asp418=) rs2071313 0.30843
NM_000388.4(CASR):c.*1015A>G rs9740 0.27327
NM_001001433.3(STX16):c.*1928C>T rs11578 0.24059
NM_004752.4(GCM2):c.-44T>C rs16870746 0.17796
NM_000388.4(CASR):c.*1093C>T rs1802757 0.17297
NM_000315.4(PTH):c.247C>A (p.Arg83=) rs6256 0.12676
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725 0.10682
NM_001001433.3(STX16):c.*183G>T rs1052642 0.10193
NM_000388.4(CASR):c.2968A>G (p.Arg990Gly) rs1042636 0.08688
NM_000388.4(CASR):c.*1235A>G rs34042920 0.06757
NM_001001433.3(STX16):c.*2365A>T rs189786439 0.05203
NM_001001433.3(STX16):c.-350C>A rs41296205 0.04872
NM_001001433.2(STX16):c.-744T>C rs6026428 0.03911
NM_000315.4(PTH):c.*319A>G rs16912873 0.03789
NM_001001433.3(STX16):c.*1581G>C rs73302110 0.03645
NM_001001433.3(STX16):c.443G>A (p.Arg148Gln) rs41276950 0.03442
NM_004752.4(GCM2):c.607G>A (p.Gly203Ser) rs7744163 0.03045
NM_004752.4(GCM2):c.462G>A (p.Lys154=) rs61734276 0.03037
NM_001370259.2(MEN1):c.435C>T (p.Ser145=) rs61736636 0.02784
NM_001001433.3(STX16):c.*2060T>C rs115404291 0.02468
NM_001001433.3(STX16):c.*70G>A rs114597931 0.02300
NM_001001433.3(STX16):c.*1997A>G rs78816069 0.02027
NM_004752.4(GCM2):c.897T>C (p.Pro299=) rs73440491 0.01873
NM_001370259.2(MEN1):c.-23-14G>C rs886048479 0.01869
NM_024529.5(CDC73):c.*1267A>G rs78218016 0.01764
NM_004752.4(GCM2):c.*634C>T rs76143708 0.01709
NM_001370259.2(MEN1):c.*302C>T rs1804849 0.01607
NM_001001433.3(STX16):c.*2080G>A rs111631847 0.01560
NM_000315.4(PTH):c.276G>A (p.Glu92=) rs76760723 0.01524
NM_000315.4(PTH):c.86+9T>G rs75277526 0.01524
NM_001001433.3(STX16):c.*1899C>T rs138678203 0.01442
NM_000388.4(CASR):c.1333A>G (p.Thr445Ala) rs12493789 0.01436
NM_001001433.3(STX16):c.569G>A (p.Arg190Gln) rs114786310 0.01421
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_004752.4(GCM2):c.1060A>G (p.Met354Val) rs61734278 0.01292
NM_024529.5(CDC73):c.*580A>T rs191600804 0.01264
NM_024529.5(CDC73):c.*2950A>G rs144681513 0.01153
NM_024529.5(CDC73):c.*3507G>T rs151216299 0.01140
NM_001001433.3(STX16):c.*2543G>C rs75424783 0.01014
NM_000388.4(CASR):c.2610G>A (p.Glu870=) rs143738711 0.01002
NM_001001433.3(STX16):c.*1863C>A rs141875151 0.00929
NM_004752.4(GCM2):c.844T>G (p.Tyr282Asp) rs61734277 0.00874
NM_001370259.2(MEN1):c.*307T>G rs1804848 0.00855
NM_004752.4(GCM2):c.903C>T (p.Asp301=) rs77910271 0.00552
NM_001001433.3(STX16):c.557-7G>C rs41276952 0.00517
NM_024529.5(CDC73):c.1185A>G (p.Gln395=) rs116358657 0.00511
NM_024529.5(CDC73):c.*2304T>G rs144363422 0.00424
NM_001001433.3(STX16):c.*3194C>T rs142088857 0.00412
NM_001001433.3(STX16):c.*2183G>A rs147429412 0.00329
NM_001001433.3(STX16):c.*2199C>T rs139818778 0.00317
NM_001001433.3(STX16):c.141C>T (p.Asp47=) rs73598392 0.00268
NM_004752.4(GCM2):c.943A>G (p.Asn315Asp) rs114070356 0.00258
NM_001001433.3(STX16):c.-355C>T rs141733765 0.00250
NM_004752.4(GCM2):c.157G>A (p.Asp53Asn) rs11963186 0.00245
NM_004752.4(GCM2):c.168G>C (p.Lys56Asn) rs11963184 0.00230
NM_024529.5(CDC73):c.*2085G>C rs150030810 0.00217
NM_001001433.3(STX16):c.*1797C>G rs148109645 0.00211
NM_004752.4(GCM2):c.*643A>T rs149605763 0.00205
NM_024529.5(CDC73):c.*3419T>A rs566373225 0.00205
NM_024529.5(CDC73):c.*12C>A rs193025205 0.00196
NM_024529.5(CDC73):c.*518A>G rs190433473 0.00195
NM_001001433.3(STX16):c.*2293G>A rs185815575 0.00170
NM_001001433.3(STX16):c.*2885C>T rs188362833 0.00170
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092 0.00163
NM_004752.4(GCM2):c.344-7T>C rs184620420 0.00161
NM_001001433.3(STX16):c.132+15G>A rs139859128 0.00147
NM_024529.5(CDC73):c.*1365T>C rs180929933 0.00143
NM_001370259.2(MEN1):c.*185C>T rs111895237 0.00133
NM_024529.5(CDC73):c.-95G>A rs143969598 0.00133
NM_000388.4(CASR):c.1775A>G (p.Asn592Ser) rs117375173 0.00128
NM_001001433.3(STX16):c.-534C>G rs190719996 0.00128
NM_001370259.2(MEN1):c.1296G>A (p.Leu432=) rs138770431 0.00119
NM_024529.5(CDC73):c.*1472T>G rs576716003 0.00117
NM_024529.5(CDC73):c.*2446C>T rs572307472 0.00114
NM_001370259.2(MEN1):c.30G>T (p.Leu10=) rs371192390 0.00111
NM_001001433.3(STX16):c.*1790A>T rs145827696 0.00102
NM_000388.4(CASR):c.-154T>A rs186365367 0.00101
NM_000388.4(CASR):c.6A>C (p.Ala2=) rs112042188 0.00098
NM_001001433.3(STX16):c.-63T>C rs181473720 0.00098
NM_001001433.3(STX16):c.456G>T (p.Glu152Asp) rs138647604 0.00098
NM_024529.5(CDC73):c.33C>T (p.Tyr11=) rs150951102 0.00094
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894 0.00086
NM_024529.5(CDC73):c.*1132G>T rs1017988008 0.00078
NM_024529.5(CDC73):c.*3266A>G rs532839308 0.00075
NM_000388.4(CASR):c.1285C>T (p.His429Tyr) rs142818334 0.00073
NM_000315.4(PTH):c.*51A>G rs369469373 0.00071
NM_024529.5(CDC73):c.*3524A>G rs548190260 0.00071
NM_001001433.3(STX16):c.*1886T>C rs150647186 0.00070
NM_024529.5(CDC73):c.1032T>G (p.Val344=) rs148612206 0.00070
NM_004752.4(GCM2):c.156C>T (p.Ser52=) rs147096473 0.00066
NM_000388.4(CASR):c.*923T>C rs201230484 0.00061
NM_024529.5(CDC73):c.-11G>A rs80356643 0.00056
NM_001001433.3(STX16):c.*114C>T rs191638951 0.00054
NM_000388.4(CASR):c.915C>A (p.Ile305=) rs200528343 0.00051
NM_001370259.2(MEN1):c.*272T>C rs563783609 0.00051
NM_001001433.3(STX16):c.*1488A>C rs565168524 0.00050
NM_004752.4(GCM2):c.1181A>C (p.Tyr394Ser) rs142287570 0.00050
NM_001001433.3(STX16):c.585G>A (p.Gln195=) rs147137636 0.00048
NM_001370259.2(MEN1):c.*470A>G rs778272737 0.00048
NM_001370259.2(MEN1):c.1049+9C>T rs200517349 0.00048
NM_000388.4(CASR):c.1733-9A>G rs190731787 0.00044
NM_004752.4(GCM2):c.319G>A (p.Asp107Asn) rs61741855 0.00043
NM_024529.5(CDC73):c.*453A>C rs547363180 0.00042
NM_000388.4(CASR):c.*1201C>T rs886057837 0.00039
NM_000388.4(CASR):c.2064C>T (p.Phe688=) rs150869744 0.00037
NM_001001433.3(STX16):c.594C>T (p.Phe198=) rs146333716 0.00037
NM_024529.5(CDC73):c.*1761T>C rs528066706 0.00036
NM_000315.4(PTH):c.*55C>T rs780806029 0.00035
NM_000388.4(CASR):c.2824G>A (p.Glu942Lys) rs76327999 0.00034
NM_001001433.3(STX16):c.-550G>A rs148071494 0.00034
NM_024529.5(CDC73):c.*1787A>G rs747621423 0.00029
NM_001001433.3(STX16):c.*3110G>T rs148669648 0.00028
NM_001001433.3(STX16):c.*1049G>A rs559176715 0.00027
NM_004752.4(GCM2):c.*217T>A rs866777825 0.00026
NM_004752.4(GCM2):c.*746A>G rs886060975 0.00026
NM_004752.4(GCM2):c.186C>T (p.Ser62=) rs141006427 0.00026
NM_024529.5(CDC73):c.*1644C>T rs764317616 0.00024
NM_024529.5(CDC73):c.-10G>T rs188082584 0.00024
NM_004752.4(GCM2):c.1395C>T (p.His465=) rs139538731 0.00023
NM_001001433.3(STX16):c.*2137C>T rs886056861 0.00022
NM_024529.5(CDC73):c.*3791T>C rs886045739 0.00022
NM_001001433.3(STX16):c.*1186C>T rs933579094 0.00021
NM_004752.4(GCM2):c.*639C>T rs551025129 0.00021
NM_000388.4(CASR):c.*87C>T rs202045621 0.00020
NM_001370259.2(MEN1):c.*794G>A rs117705251 0.00020
NM_001370259.2(MEN1):c.762G>A (p.Leu254=) rs199909967 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_001001433.3(STX16):c.644A>T (p.His215Leu) rs185111037 0.00017
NM_004752.4(GCM2):c.1342A>G (p.Met448Val) rs147168542 0.00017
NM_004752.4(GCM2):c.180C>T (p.His60=) rs150244671 0.00017
NM_000388.4(CASR):c.573G>A (p.Glu191=) rs141631116 0.00016
NM_001001433.3(STX16):c.*1223A>G rs879449362 0.00016
NM_001001433.3(STX16):c.*1652G>A rs186800651 0.00016
NM_001001433.3(STX16):c.*56T>C rs886056849 0.00016
NM_024529.5(CDC73):c.-143G>C rs778446879 0.00016
NM_001370259.2(MEN1):c.1508G>A (p.Gly503Asp) rs375804228 0.00015
NM_004752.4(GCM2):c.90+12G>C rs772701925 0.00015
NM_000388.4(CASR):c.1752G>A (p.Lys584=) rs138638329 0.00014
NM_001001433.3(STX16):c.706C>T (p.Arg236Trp) rs188308261 0.00014
NM_001370259.2(MEN1):c.1351-4C>T rs764408631 0.00014
NM_004752.4(GCM2):c.*649T>C rs886060977 0.00013
NM_024529.5(CDC73):c.*2427T>C rs372585994 0.00013
NM_024529.5(CDC73):c.*683G>A rs905879297 0.00013
NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu) rs750112288 0.00012
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser) rs745404679 0.00012
NM_024529.5(CDC73):c.*1985T>A rs886045726 0.00012
NM_024529.5(CDC73):c.840G>A (p.Leu280=) rs10921320 0.00012
NM_001001433.3(STX16):c.*2152G>A rs1027698811 0.00011
NM_001370259.2(MEN1):c.1535C>T (p.Ser512Leu) rs141679530 0.00011
NM_004752.4(GCM2):c.*607A>G rs771232878 0.00011
NM_001001433.3(STX16):c.*2016G>T rs779563360 0.00010
NM_001001433.3(STX16):c.*648A>C rs980469101 0.00010
NM_024529.5(CDC73):c.*2420A>C rs536960020 0.00010
NM_024529.5(CDC73):c.*2677G>A rs192018514 0.00010
NM_024529.5(CDC73):c.-30C>T rs770313192 0.00010
NM_000388.4(CASR):c.-137C>T rs201074178 0.00009
NM_001001433.3(STX16):c.*2095C>T rs577869699 0.00009
NM_001001433.3(STX16):c.*952C>A rs886056854 0.00009
NM_001001433.3(STX16):c.-160G>A rs368572667 0.00009
NM_001001433.3(STX16):c.716A>G (p.Glu239Gly) rs202102691 0.00009
NM_004752.4(GCM2):c.*50G>A rs746217594 0.00009
NM_024529.4(CDC73):c.-190G>C rs886045709 0.00009
NM_024529.5(CDC73):c.*1499T>A rs138503809 0.00009
NM_000388.4(CASR):c.1188A>G (p.Thr396=) rs200312817 0.00008
NM_001370259.2(MEN1):c.*438C>T rs886048474 0.00008
NM_004752.4(GCM2):c.1063G>A (p.Ala355Thr) rs764488668 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_000388.4(CASR):c.-111C>A rs201098532 0.00006
NM_000388.4(CASR):c.762T>C (p.His254=) rs76438850 0.00006
NM_001001433.3(STX16):c.*173C>G rs765639298 0.00006
NM_001001433.3(STX16):c.*2499C>T rs886056866 0.00006
NM_001001433.3(STX16):c.*3093A>G rs886056869 0.00006
NM_001001433.3(STX16):c.-25A>C rs368579447 0.00006
NM_001370259.2(MEN1):c.1003C>A (p.Arg335=) rs371364206 0.00006
NM_001370259.2(MEN1):c.1764G>A (p.Lys588=) rs373669288 0.00006
NM_004752.4(GCM2):c.1144G>A (p.Val382Met) rs371918069 0.00006
NM_024529.5(CDC73):c.*1083A>T rs367704451 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_000388.4(CASR):c.*251G>C rs904222689 0.00005
NM_001001433.3(STX16):c.*17G>A rs766728803 0.00005
NM_001001433.3(STX16):c.*2276G>C rs886086537 0.00005
NM_004752.4(GCM2):c.*588A>G rs575580806 0.00005
NM_004752.4(GCM2):c.91-7C>T rs549670381 0.00005
NM_024529.5(CDC73):c.*1251A>G rs550417983 0.00005
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_001001433.3(STX16):c.*1160G>A rs886056855 0.00004
NM_001001433.3(STX16):c.*1378A>T rs750137163 0.00004
NM_001001433.3(STX16):c.*2138G>A rs535827417 0.00004
NM_001001433.3(STX16):c.*441C>G rs886056852 0.00004
NM_001001433.3(STX16):c.-409G>A rs886056844 0.00004
NM_001001433.3(STX16):c.-421C>G rs557592494 0.00004
NM_001001433.3(STX16):c.394-7C>T rs533111939 0.00004
NM_001370259.2(MEN1):c.753C>T (p.Thr251=) rs763326062 0.00004
NM_001370259.2(MEN1):c.774G>C (p.Gln258His) rs374659656 0.00004
NM_001370259.2(MEN1):c.941G>A (p.Arg314Gln) rs771645621 0.00004
NM_004752.4(GCM2):c.1364G>A (p.Arg455Gln) rs145103332 0.00004
NM_004752.4(GCM2):c.344-12T>C rs377314144 0.00004
NM_004752.4(GCM2):c.345G>A (p.Lys115=) rs1040019354 0.00004
NM_004752.4(GCM2):c.457-10G>A rs369032326 0.00004
NM_004752.4(GCM2):c.687G>A (p.Gly229=) rs755090999 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_000315.4(PTH):c.69G>A (p.Ser23=) rs377308600 0.00003
NM_000388.4(CASR):c.*103A>C rs199899073 0.00003
NM_001001433.3(STX16):c.*1746C>T rs886056858 0.00003
NM_001001433.3(STX16):c.*1898A>G rs886056860 0.00003
NM_001001433.3(STX16):c.*2475T>C rs886056864 0.00003
NM_001001433.3(STX16):c.-693G>A rs149351460 0.00003
NM_001370259.2(MEN1):c.*693T>C rs1229690026 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_000388.4(CASR):c.3168G>T (p.Val1056=) rs886057831 0.00002
NM_000388.4(CASR):c.930C>T (p.Tyr310=) rs201737357 0.00002
NM_001001433.3(STX16):c.*1312A>T rs757085474 0.00002
NM_001001433.3(STX16):c.*1896G>A rs543577961 0.00002
NM_001001433.3(STX16):c.*2568C>T rs536513007 0.00002
NM_001001433.3(STX16):c.-621G>A rs567647430 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_000315.4(PTH):c.*97A>G rs574555824 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_001001433.3(STX16):c.*1195A>G rs1488875431 0.00001
NM_001001433.3(STX16):c.*1547C>G rs532426531 0.00001
NM_001001433.3(STX16):c.*217G>A rs145140409 0.00001
NM_001001433.3(STX16):c.*2558T>C rs1276361785 0.00001
NM_001001433.3(STX16):c.*2896A>G rs886056868 0.00001
NM_001001433.3(STX16):c.*539G>A rs571571425 0.00001
NM_001001433.3(STX16):c.*558T>C rs1192979707 0.00001
NM_001001433.3(STX16):c.-494G>A rs1018502247 0.00001
NM_001001433.3(STX16):c.-707G>A rs886056841 0.00001
NM_001001433.3(STX16):c.217C>T (p.Arg73Trp) rs115046538 0.00001
NM_001001433.3(STX16):c.315G>A (p.Lys105=) rs759176630 0.00001
NM_001001433.3(STX16):c.454G>A (p.Glu152Lys) rs759831553 0.00001
NM_001001433.3(STX16):c.593T>C (p.Phe198Ser) rs756954719 0.00001
NM_001001433.3(STX16):c.904A>G (p.Met302Val) rs886056846 0.00001
NM_001370259.2(MEN1):c.*104C>T rs886048477 0.00001
NM_001370259.2(MEN1):c.*400G>A rs1351825181 0.00001
NM_001370259.2(MEN1):c.*89G>A rs886048478 0.00001
NM_001370259.2(MEN1):c.570G>A (p.Gly190=) rs547249181 0.00001
NM_004752.4(GCM2):c.*630T>A rs886060978 0.00001
NM_004752.4(GCM2):c.*717C>T rs886060976 0.00001
NM_004752.4(GCM2):c.116G>A (p.Arg39Gln) rs534895356 0.00001
NM_004752.4(GCM2):c.1504A>C (p.Asn502His) rs533942394 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.*3063G>A rs182545034 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_000244.4(MEN1):c.-35A>C rs679946
NM_000244.4(MEN1):c.-35A>T rs679946
NM_000315.4(PTH):c.-33C>T rs745726399
NM_000315.4(PTH):c.-83T>C rs886048030
NM_000315.4(PTH):c.123C>A (p.Asn41Lys) rs755183877
NM_000315.4(PTH):c.191A>G (p.Asn64Ser) rs1370035454
NM_000388.4(CASR):c.*1011T>A rs922763349
NM_000388.4(CASR):c.*188dup rs33974189
NM_000388.4(CASR):c.*60A>T rs4677948
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.-378del rs537119483
NM_000388.4(CASR):c.1008G>C (p.Lys336Asn) rs548403340
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_000388.4(CASR):c.372C>G (p.Asn124Lys)
NM_000388.4(CASR):c.78C>G (p.Ala26=) rs77852524
NM_000516.7(GNAS):c.139+1G>C rs2089393181
NM_001001433.3(STX16):c.*1156G>C rs1032502684
NM_001001433.3(STX16):c.*1203T>C rs886056856
NM_001001433.3(STX16):c.*1232A>G rs886056857
NM_001001433.3(STX16):c.*1565C>G rs2084170375
NM_001001433.3(STX16):c.*1676T>A rs893623188
NM_001001433.3(STX16):c.*1747G>C rs140662326
NM_001001433.3(STX16):c.*1764C>T rs886056859
NM_001001433.3(STX16):c.*1957T>C rs2084183470
NM_001001433.3(STX16):c.*2312G>A rs886056862
NM_001001433.3(STX16):c.*2377G>T rs559654103
NM_001001433.3(STX16):c.*2555C>G rs2084203495
NM_001001433.3(STX16):c.*2574T>C rs528651545
NM_001001433.3(STX16):c.*2594T>C rs886056867
NM_001001433.3(STX16):c.*2627G>C rs76626612
NM_001001433.3(STX16):c.*270T>C rs886056850
NM_001001433.3(STX16):c.*2962C>T rs192204838
NM_001001433.3(STX16):c.*3053C>T rs769976417
NM_001001433.3(STX16):c.*3092A>C rs2084217748
NM_001001433.3(STX16):c.*436G>C rs886056851
NM_001001433.3(STX16):c.-377G>A rs886056845
NM_001001433.3(STX16):c.-464G>A rs41296203
NM_001001433.3(STX16):c.-465T>G rs886056843
NM_001001433.3(STX16):c.-673C>G rs886056842
NM_001001433.3(STX16):c.106C>A (p.Pro36Thr) rs142560013
NM_001001433.3(STX16):c.484G>T (p.Val162Leu) rs116490884
NM_001001433.3(STX16):c.540G>A (p.Gln180=) rs2296524
NM_001001433.3(STX16):c.781A>C (p.Ile261Leu) rs1031420787
NM_001001433.3(STX16):c.875C>T (p.Ala292Val) rs2084118222
NM_001001433.3(STX16):c.907C>G (p.Leu303Val) rs886056847
NM_001001433.3(STX16):c.912G>C (p.Val304=) rs886056848
NM_001370259.2(MEN1):c.*126C>T rs138595686
NM_001370259.2(MEN1):c.*245C>T rs1941463518
NM_001370259.2(MEN1):c.*300CTC[2] rs143341556
NM_001370259.2(MEN1):c.*341C>G rs892949876
NM_001370259.2(MEN1):c.*373G>C rs886048476
NM_001370259.2(MEN1):c.*392G>A rs886048475
NM_001370259.2(MEN1):c.*527G>T rs886048473
NM_001370259.2(MEN1):c.*529A>G rs886048472
NM_001370259.2(MEN1):c.*533C>T rs879327862
NM_001370259.2(MEN1):c.*557C>A rs886048471
NM_001370259.2(MEN1):c.*560G>T rs886048470
NM_001370259.2(MEN1):c.*570C>A rs886048469
NM_001370259.2(MEN1):c.1186-10C>T rs762303621
NM_001370259.2(MEN1):c.1414G>C (p.Gly472Arg) rs1941555781
NM_001370259.2(MEN1):c.274C>A (p.Arg92Ser) rs1488275961
NM_001370259.2(MEN1):c.327A>C (p.Glu109Asp) rs773976527
NM_001370259.2(MEN1):c.61C>A (p.Arg21Ser) rs541476418
NM_001370259.2(MEN1):c.643G>A (p.Val215Met) rs794728621
NM_001370259.2(MEN1):c.655-6C>G rs77461664
NM_001370259.2(MEN1):c.655-6C>T rs77461664
NM_001370259.2(MEN1):c.849G>T (p.Leu283=) rs1592646641
NM_001370259.2(MEN1):c.965T>C (p.Met322Thr) rs1941725569
NM_004752.3(GCM2):c.-74C>T rs2153156
NM_004752.4(GCM2):c.*521C>A rs6936637
NM_004752.4(GCM2):c.*521C>T rs6936637
NM_004752.4(GCM2):c.*611T>C rs886060979
NM_004752.4(GCM2):c.*726dup rs567863142
NM_004752.4(GCM2):c.-74C>A rs2153156
NM_004752.4(GCM2):c.1162A>G (p.Lys388Glu) rs759712994
NM_004752.4(GCM2):c.1431T>A (p.Thr477=) rs780587572
NM_004752.4(GCM2):c.265C>G (p.Gln89Glu) rs886060981
NM_004752.4(GCM2):c.71A>C (p.Asn24Thr) rs1379979224
NM_004752.4(GCM2):c.783C>T (p.Tyr261=) rs534221748
NM_004752.4(GCM2):c.961G>A (p.Glu321Lys) rs886060980
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.*3641G>A rs565579791
NM_024529.5(CDC73):c.*3695C>G rs1678098304
NM_024529.5(CDC73):c.*3786T>A rs74130943
NM_024529.5(CDC73):c.*3786T>C rs74130943
NM_024529.5(CDC73):c.*3808TTG[1] rs143131672
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_130799.2(MEN1):c.-106T>C rs886048481
NM_130799.2(MEN1):c.-94G>A rs886048480

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