ClinVar Miner

List of variants studied for familial hypoparathyroidism by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 322
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004752.4(GCM2):c.1060A>G (p.Met354Val) rs61734278 0.01292
NM_004752.4(GCM2):c.943A>G (p.Asn315Asp) rs114070356 0.00258
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092 0.00163
NM_004752.4(GCM2):c.306G>A (p.Arg102=) rs149143032 0.00142
NM_002067.5(GNA11):c.705C>T (p.Tyr235=) rs138168314 0.00091
NM_002067.5(GNA11):c.885C>T (p.Phe295=) rs147368872 0.00065
NM_004752.4(GCM2):c.1181A>C (p.Tyr394Ser) rs142287570 0.00050
NM_004752.4(GCM2):c.319G>A (p.Asp107Asn) rs61741855 0.00043
NM_000388.4(CASR):c.2824G>A (p.Glu942Lys) rs76327999 0.00034
NM_004752.4(GCM2):c.1342A>G (p.Met448Val) rs147168542 0.00017
NM_000388.4(CASR):c.27C>T (p.Val9=) rs141880581 0.00016
NM_002067.5(GNA11):c.570C>T (p.Ile190=) rs201668624 0.00014
NM_002067.5(GNA11):c.501C>T (p.Ile167=) rs756722832 0.00012
NM_000388.4(CASR):c.854G>A (p.Arg285Gln) rs200039241 0.00011
NM_002067.5(GNA11):c.476+13G>A rs371755659 0.00011
NM_000388.4(CASR):c.73C>T (p.Arg25Ter) rs201633414 0.00010
NM_000388.4(CASR):c.740C>T (p.Ser247Phe) rs200382161 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.2803C>A (p.Pro935Thr) rs201449422 0.00009
NM_000388.4(CASR):c.2844G>A (p.Leu948=) rs140586950 0.00009
NM_002067.5(GNA11):c.240C>T (p.Tyr80=) rs145033220 0.00009
NM_002067.5(GNA11):c.889+14C>T rs369371015 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_000388.4(CASR):c.848T>C (p.Ile283Thr) rs142745096 0.00007
NM_002067.5(GNA11):c.489C>T (p.Asp163=) rs141926949 0.00007
NM_004752.4(GCM2):c.1063G>A (p.Ala355Thr) rs764488668 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_000388.4(CASR):c.2870A>G (p.Gln957Arg) rs150979829 0.00006
NM_002067.5(GNA11):c.605+10G>A rs535105766 0.00006
NM_004752.4(GCM2):c.1144G>A (p.Val382Met) rs371918069 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_000388.4(CASR):c.1529A>G (p.Tyr510Cys) rs372504955 0.00004
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_000388.4(CASR):c.705C>A (p.Ile235=) rs199887150 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_004752.4(GCM2):c.1109C>T (p.Thr370Met) rs146395801 0.00004
NM_004752.4(GCM2):c.1364G>A (p.Arg455Gln) rs145103332 0.00004
NM_004752.4(GCM2):c.318C>T (p.Cys106=) rs749600723 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.2104G>A (p.Val702Ile) rs201828974 0.00003
NM_000388.4(CASR):c.2265G>T (p.Glu755Asp) rs201366240 0.00003
NM_000388.4(CASR):c.2303G>T (p.Gly768Val) rs201858689 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_002067.5(GNA11):c.462C>T (p.Ser154=) rs200449144 0.00003
NM_002067.5(GNA11):c.633G>A (p.Ser211=) rs756381542 0.00003
NM_002067.5(GNA11):c.889+7C>T rs201814380 0.00003
NM_004752.4(GCM2):c.187G>A (p.Gly63Ser) rs104893960 0.00003
NM_000388.4(CASR):c.1377+17T>C rs200650843 0.00002
NM_000388.4(CASR):c.1456G>T (p.Val486Leu) rs201829972 0.00002
NM_000388.4(CASR):c.2101C>T (p.Arg701Cys) rs757302986 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.445G>A (p.Val149Ile) rs749288251 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_002067.5(GNA11):c.592A>C (p.Asn198His) rs768371546 0.00002
NM_002067.5(GNA11):c.605+5C>T rs759838121 0.00002
NM_000388.4(CASR):c.1011C>G (p.Val337=) rs201820733 0.00001
NM_000388.4(CASR):c.1028T>C (p.Val343Ala) rs750427763 0.00001
NM_000388.4(CASR):c.1091C>A (p.Ala364Glu) rs200771541 0.00001
NM_000388.4(CASR):c.1105C>A (p.Pro369Thr) rs1217895146 0.00001
NM_000388.4(CASR):c.1124G>A (p.Arg375Lys) rs760190284 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.1175G>A (p.Arg392Gln) rs1287075426 0.00001
NM_000388.4(CASR):c.1189G>A (p.Gly397Arg) rs1064794291 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.1340G>A (p.Gly447Asp) rs141315218 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.2038C>T (p.Arg680Cys) rs767363250 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.2255G>A (p.Arg752His) rs771529256 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.2638G>A (p.Ala880Thr) rs763865303 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.2693G>T (p.Arg898Leu) rs121909269 0.00001
NM_000388.4(CASR):c.269A>C (p.Asn90Thr) rs193922439 0.00001
NM_000388.4(CASR):c.2819A>C (p.Gln940Pro) rs1293909274 0.00001
NM_000388.4(CASR):c.2915C>T (p.Thr972Met) rs200620134 0.00001
NM_000388.4(CASR):c.2978C>T (p.Thr993Met) rs758227966 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.921G>A (p.Met307Ile) rs751095642 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_002067.5(GNA11):c.138C>T (p.Gly46=) rs776843648 0.00001
NM_002067.5(GNA11):c.161C>T (p.Thr54Met) rs1335558363 0.00001
NM_002067.5(GNA11):c.477-12G>A rs766787225 0.00001
NM_002067.5(GNA11):c.549C>T (p.Arg183=) rs758392443 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_004752.4(GCM2):c.116G>A (p.Arg39Gln) rs534895356 0.00001
NM_004752.4(GCM2):c.1504A>C (p.Asn502His) rs533942394 0.00001
NM_000388.4(CASR):c.108dup (p.Leu37fs) rs886041823
NM_000388.4(CASR):c.1114A>G (p.Thr372Ala)
NM_000388.4(CASR):c.1115C>A (p.Thr372Asn) rs2074634402
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.1172T>C (p.Phe391Ser) rs2074635544
NM_000388.4(CASR):c.127G>A (p.Gly43Arg) rs866899753
NM_000388.4(CASR):c.1287C>A (p.His429Gln) rs746515147
NM_000388.4(CASR):c.1293G>T (p.Leu431Phe)
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.1394G>A (p.Arg465Gln) rs104893716
NM_000388.4(CASR):c.1425G>T (p.Glu475Asp) rs2107643445
NM_000388.4(CASR):c.1496A>G (p.Glu499Gly)
NM_000388.4(CASR):c.1498G>A (p.Asp500Asn) rs1156349993
NM_000388.4(CASR):c.1507A>G (p.Ile503Val) rs200910001
NM_000388.4(CASR):c.1525G>C (p.Gly509Arg) rs193922423
NM_000388.4(CASR):c.1609-11C>G
NM_000388.4(CASR):c.1622A>G (p.Asn541Ser) rs201202700
NM_000388.4(CASR):c.1639C>A (p.Leu547Met)
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys) rs104893712
NM_000388.4(CASR):c.1820C>T (p.Ser607Leu) rs1052956823
NM_000388.4(CASR):c.1838G>A (p.Gly613Glu)
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.1943G>A (p.Arg648Gln) rs757736220
NM_000388.4(CASR):c.196C>T (p.Arg66Cys) rs121909266
NM_000388.4(CASR):c.2056A>G (p.Ile686Val) rs753013993
NM_000388.4(CASR):c.205C>T (p.Arg69Cys) rs1313627454
NM_000388.4(CASR):c.2065G>A (p.Val689Met) rs2107649885
NM_000388.4(CASR):c.2099A>G (p.Asn700Ser) rs1576877437
NM_000388.4(CASR):c.20G>A (p.Cys7Tyr) rs2074528024
NM_000388.4(CASR):c.2101C>A (p.Arg701Ser) rs757302986
NM_000388.4(CASR):c.2107C>T (p.Leu703Phe)
NM_000388.4(CASR):c.2213T>C (p.Ile738Thr) rs759337909
NM_000388.4(CASR):c.2234C>G (p.Thr745Ser)
NM_000388.4(CASR):c.2263G>A (p.Glu755Lys)
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.235G>C (p.Glu79Gln)
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.2480G>A (p.Ser827Asn)
NM_000388.4(CASR):c.2495T>C (p.Phe832Ser) rs2107650603
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.2594C>G (p.Ser865Cys) rs2074941438
NM_000388.4(CASR):c.2645A>G (p.Lys882Arg) rs1553769162
NM_000388.4(CASR):c.2686C>T (p.Arg896Cys) rs749125441
NM_000388.4(CASR):c.270C>T (p.Asn90=) rs201944670
NM_000388.4(CASR):c.2804_2836dup (p.Pro935_Gln945dup) rs2074946020
NM_000388.4(CASR):c.2948A>G (p.Gln983Arg) rs878853975
NM_000388.4(CASR):c.2980C>T (p.His994Tyr) rs1559969980
NM_000388.4(CASR):c.3010A>C (p.Ser1004Arg) rs780255825
NM_000388.4(CASR):c.3017C>T (p.Thr1006Met)
NM_000388.4(CASR):c.3026_3031delinsAACACC (p.Arg1009_Glu1011delinsGlnHisGln)
NM_000388.4(CASR):c.3040C>A (p.Leu1014Ile) rs202219108
NM_000388.4(CASR):c.3135G>C (p.Glu1045Asp) rs765519865
NM_000388.4(CASR):c.3175T>C (p.Ser1059Pro)
NM_000388.4(CASR):c.319G>A (p.Ala107Thr)
NM_000388.4(CASR):c.3234A>G (p.Ser1078=) rs556263764
NM_000388.4(CASR):c.367T>A (p.Leu123Met) rs2107627702
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.50C>T (p.Thr17Ile) rs1424489717
NM_000388.4(CASR):c.521T>C (p.Leu174Pro)
NM_000388.4(CASR):c.528C>G (p.Asn176Lys)
NM_000388.4(CASR):c.54T>G (p.Ser18=) rs558522564
NM_000388.4(CASR):c.553C>T (p.Arg185Ter) rs104893707
NM_000388.4(CASR):c.554G>A (p.Arg185Gln) rs104893689
NM_000388.4(CASR):c.571G>A (p.Glu191Lys) rs104893697
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.708C>T (p.Cys236=)
NM_000388.4(CASR):c.721G>A (p.Glu241Lys) rs2107632158
NM_000388.4(CASR):c.739T>G (p.Ser247Ala)
NM_000388.4(CASR):c.749A>G (p.Glu250Gly) rs1256348744
NM_000388.4(CASR):c.74G>A (p.Arg25Gln) rs568902441
NM_000388.4(CASR):c.788C>T (p.Thr263Met) rs201456938
NM_000388.4(CASR):c.793A>G (p.Lys265Glu)
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.866C>A (p.Thr289Lys)
NM_000388.4(CASR):c.86A>G (p.Lys29Arg)
NM_000388.4(CASR):c.876C>T (p.Ile292=) rs772232871
NM_000388.4(CASR):c.888C>T (p.Ser296=) rs759988398
NM_000388.4(CASR):c.897G>A (p.Trp299Ter)
NM_000388.4(CASR):c.991C>T (p.Arg331Trp) rs2074632178
NM_002067.5(GNA11):c.1042A>G (p.Ile348Val)
NM_002067.5(GNA11):c.178C>T (p.Arg60Cys) rs587777021
NM_002067.5(GNA11):c.205del (p.Glu69fs)
NM_002067.5(GNA11):c.239A>T (p.Tyr80Phe)
NM_002067.5(GNA11):c.29G>A (p.Cys10Tyr)
NM_002067.5(GNA11):c.314A>G (p.Gln105Arg)
NM_002067.5(GNA11):c.322-10G>A rs368874580
NM_002067.5(GNA11):c.446G>A (p.Arg149His)
NM_002067.5(GNA11):c.447C>T (p.Arg149=)
NM_002067.5(GNA11):c.469G>A (p.Ala157Thr)
NM_002067.5(GNA11):c.477-12G>T
NM_002067.5(GNA11):c.477-14C>T
NM_002067.5(GNA11):c.485C>G (p.Thr162Ser)
NM_002067.5(GNA11):c.595A>G (p.Ile199Val)
NM_002067.5(GNA11):c.606-16C>A
NM_002067.5(GNA11):c.606-2A>G
NM_002067.5(GNA11):c.778A>G (p.Thr260Ala)
NM_002067.5(GNA11):c.880G>A (p.Glu294Lys)
NM_002067.5(GNA11):c.889+15G>A
NM_002067.5(GNA11):c.889+5G>A rs768590899
NM_002067.5(GNA11):c.889+5G>T
NM_002067.5(GNA11):c.899G>A (p.Arg300Gln)
NM_002067.5(GNA11):c.916C>T (p.Arg306Trp)
NM_002067.5(GNA11):c.940G>T (p.Val314Leu)
NM_002067.5(GNA11):c.984C>A (p.Phe328Leu)
NM_004752.4(GCM2):c.100C>G (p.Leu34Val)
NM_004752.4(GCM2):c.1027G>A (p.Val343Met)
NM_004752.4(GCM2):c.1048C>T (p.Gln350Ter)
NM_004752.4(GCM2):c.1052T>A (p.Phe351Tyr)
NM_004752.4(GCM2):c.1076A>G (p.Tyr359Cys)
NM_004752.4(GCM2):c.1100_1103del (p.Arg367fs)
NM_004752.4(GCM2):c.1111A>G (p.Thr371Ala)
NM_004752.4(GCM2):c.1120C>T (p.Pro374Ser)
NM_004752.4(GCM2):c.1123G>T (p.Gly375Cys)
NM_004752.4(GCM2):c.1177_1185dup (p.Ala393_Gln395dup) rs551375300
NM_004752.4(GCM2):c.1187C>A (p.Pro396His)
NM_004752.4(GCM2):c.1216C>T (p.Arg406Ter)
NM_004752.4(GCM2):c.1230C>G (p.Ser410Arg)
NM_004752.4(GCM2):c.1235C>T (p.Ser412Leu)
NM_004752.4(GCM2):c.1245C>A (p.Asn415Lys)
NM_004752.4(GCM2):c.1247A>G (p.Tyr416Cys)
NM_004752.4(GCM2):c.1259A>T (p.Asp420Val)
NM_004752.4(GCM2):c.1277A>G (p.Tyr426Cys)
NM_004752.4(GCM2):c.129C>G (p.Asp43Glu) rs141188465
NM_004752.4(GCM2):c.1336C>A (p.Pro446Thr)
NM_004752.4(GCM2):c.1343T>A (p.Met448Lys)
NM_004752.4(GCM2):c.1344G>C (p.Met448Ile)
NM_004752.4(GCM2):c.1348A>G (p.Ile450Val)
NM_004752.4(GCM2):c.1352C>T (p.Ala451Val)
NM_004752.4(GCM2):c.1393C>G (p.His465Asp)
NM_004752.4(GCM2):c.1396G>A (p.Glu466Lys)
NM_004752.4(GCM2):c.139C>A (p.Arg47Ser)
NM_004752.4(GCM2):c.139C>T (p.Arg47Cys)
NM_004752.4(GCM2):c.140G>A (p.Arg47His)
NM_004752.4(GCM2):c.1435G>A (p.Asp479Asn)
NM_004752.4(GCM2):c.1462G>A (p.Ala488Thr)
NM_004752.4(GCM2):c.1469G>T (p.Ser490Ile)
NM_004752.4(GCM2):c.1484T>C (p.Val495Ala)
NM_004752.4(GCM2):c.1505A>T (p.Asn502Ile)
NM_004752.4(GCM2):c.175C>T (p.Arg59Cys)
NM_004752.4(GCM2):c.199C>T (p.Arg67Cys)
NM_004752.4(GCM2):c.22G>A (p.Glu8Lys)
NM_004752.4(GCM2):c.250G>C (p.Val84Leu)
NM_004752.4(GCM2):c.255G>A (p.Val85=)
NM_004752.4(GCM2):c.265C>G (p.Gln89Glu) rs886060981
NM_004752.4(GCM2):c.307C>T (p.Pro103Ser) rs1561672362
NM_004752.4(GCM2):c.378G>C (p.Glu126Asp)
NM_004752.4(GCM2):c.40T>G (p.Ser14Ala)
NM_004752.4(GCM2):c.443C>T (p.Ala148Val)
NM_004752.4(GCM2):c.484C>T (p.Pro162Ser)
NM_004752.4(GCM2):c.51G>A (p.Met17Ile)
NM_004752.4(GCM2):c.523A>T (p.Ile175Phe)
NM_004752.4(GCM2):c.52C>A (p.Gln18Lys)
NM_004752.4(GCM2):c.536T>A (p.Met179Lys)
NM_004752.4(GCM2):c.538G>C (p.Ala180Pro)
NM_004752.4(GCM2):c.545T>C (p.Phe182Ser)
NM_004752.4(GCM2):c.547T>C (p.Tyr183His)
NM_004752.4(GCM2):c.554C>T (p.Pro185Leu)
NM_004752.4(GCM2):c.578C>T (p.Ser193Phe)
NM_004752.4(GCM2):c.611A>T (p.His204Leu)
NM_004752.4(GCM2):c.652G>A (p.Asp218Asn)
NM_004752.4(GCM2):c.657A>G (p.Ile219Met)
NM_004752.4(GCM2):c.838C>T (p.Pro280Ser)
NM_004752.4(GCM2):c.845_853dup (p.Asn284_Ser285insTyrThrAsn)
NM_004752.4(GCM2):c.913G>A (p.Val305Ile)
NM_004752.4(GCM2):c.995G>A (p.Gly332Asp)

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