ClinVar Miner

List of variants reported as benign for parathyroid gland disorder

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 264
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000388.4(CASR):c.2244= (p.Pro748=) rs1553769059 0.99999
NM_001370259.2(MEN1):c.1299T>C (p.His433=) rs540012 0.97595
NM_000388.4(CASR):c.2244G>C (p.Pro748=) rs2036400 0.97432
NM_000388.4(CASR):c.*574C>G rs6438718 0.96802
NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln) rs1801726 0.91749
NM_000388.4(CASR):c.492+19G>A rs9869985 0.91296
NC_000021.9:g.44285777T>C rs751032 0.90117
NM_001370259.2(MEN1):c.1621A>G (p.Thr541Ala) rs2959656 0.89377
NC_000003.12:g.122183002G>A rs6776158 0.61708
NM_001001433.3(STX16):c.*1785A>G rs6128397 0.60588
NM_000516.7(GNAS):c.393C>T (p.Ile131=) rs7121 0.56988
NM_000388.4(CASR):c.1609-89C>T rs4678174 0.55250
NM_000388.4(CASR):c.*1198T>C rs10190 0.54750
NM_000315.4(PTH):c.-5-10G>A rs694 0.50325
NM_000383.4(AIRE):c.995+109A>G rs1078480 0.49492
NM_000383.4(AIRE):c.1578T>C (p.Asp526=) rs1133779 0.49415
NM_001001433.3(STX16):c.*2057G>A rs7683 0.42733
NM_000383.4(AIRE):c.1197T>C (p.Ala399=) rs1800521 0.39834
NM_001370259.2(MEN1):c.1254C>T (p.Asp418=) rs2071313 0.30843
NM_000383.4(AIRE):c.1096-288G>A rs933150 0.30258
NM_000388.4(CASR):c.*1015A>G rs9740 0.27327
NM_001001433.3(STX16):c.*1928C>T rs11578 0.24059
NM_000383.4(AIRE):c.681C>T (p.Gly227=) rs1055311 0.21613
NM_000383.4(AIRE):c.588C>T (p.Ser196=) rs878081 0.18544
NM_000383.4(AIRE):c.99T>C (p.Ala33=) rs3746964 0.18036
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.1732+16T>C rs2270916 0.11379
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725 0.10682
NM_001370259.2(MEN1):c.1621= (p.Thr541=) rs2959656 0.10623
NM_000383.4(AIRE):c.1095+6G>A rs1800525 0.10544
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.3031= (p.Glu1011=) rs1801726 0.08251
NM_080425.4(GNAS):c.1307C>A (p.Ala436Asp) rs61749698 0.07665
NM_000388.4(CASR):c.*1235A>G rs34042920 0.06757
NM_001001433.3(STX16):c.*2365A>T rs189786439 0.05203
NM_000383.4(AIRE):c.1203T>C (p.Pro401=) rs61737072 0.05045
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.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_001370259.2(MEN1):c.1299= (p.His433=) rs540012 0.02405
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_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_000383.4(AIRE):c.1096-9G>C rs113512196 0.01593
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_024529.5(CDC73):c.*580A>T rs191600804 0.01264
NM_000383.4(AIRE):c.652+14C>T rs41277546 0.01242
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) rs74203920 0.01176
NM_024529.5(CDC73):c.*2950A>G rs144681513 0.01153
NM_024529.5(CDC73):c.*3507G>T rs151216299 0.01140
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu) rs34397615 0.01042
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_000383.4(AIRE):c.1279-18C>T rs72650678 0.00839
NM_000516.7(GNAS):c.366C>T (p.Pro122=) rs35287986 0.00583
NM_000383.4(AIRE):c.497C>T (p.Pro166Leu) rs11910214 0.00580
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_000383.4(AIRE):c.1401-11C>T rs371136111 0.00444
NM_024529.5(CDC73):c.*2304T>G rs144363422 0.00424
NM_001001433.3(STX16):c.*3194C>T rs142088857 0.00412
NM_000383.4(AIRE):c.548C>A (p.Thr183Asn) rs34219046 0.00411
NM_000383.4(AIRE):c.595G>A (p.Val199Ile) rs74162061 0.00404
NM_080425.4(GNAS):c.1455C>A (p.Ala485=) rs55890501 0.00388
NM_001001433.3(STX16):c.*2183G>A rs147429412 0.00329
NM_001001433.3(STX16):c.*2199C>T rs139818778 0.00317
NM_000383.4(AIRE):c.1116G>A (p.Ser372=) rs61737006 0.00304
NM_000383.4(AIRE):c.1400+10C>T rs372277949 0.00304
NM_001001433.3(STX16):c.141C>T (p.Asp47=) rs73598392 0.00268
NM_024529.5(CDC73):c.308-16C>A rs201766013 0.00252
NM_001001433.3(STX16):c.-355C>T rs141733765 0.00250
NM_000383.4(AIRE):c.1507G>A (p.Asp503Asn) rs145370269 0.00241
NM_000383.4(AIRE):c.1296G>A (p.Ala432=) rs144359012 0.00222
NM_024529.5(CDC73):c.*2085G>C rs150030810 0.00217
NM_000383.4(AIRE):c.880-18G>A rs139659079 0.00213
NM_000383.4(AIRE):c.1199C>T (p.Pro400Leu) rs142366324 0.00212
NM_001001433.3(STX16):c.*1797C>G rs148109645 0.00211
NM_000383.4(AIRE):c.1566+8C>T rs72650680 0.00206
NM_024529.5(CDC73):c.*12C>A rs193025205 0.00196
NM_024529.5(CDC73):c.*518A>G rs190433473 0.00195
NM_000388.4(CASR):c.2730C>A (p.Pro910=) rs34200949 0.00194
NM_000383.4(AIRE):c.1065C>T (p.Pro355=) rs201551372 0.00188
NM_001370259.2(MEN1):c.597C>T (p.His199=) rs150512958 0.00181
NM_000383.4(AIRE):c.63C>T (p.Ala21=) rs371796437 0.00176
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_000383.4(AIRE):c.1567-5C>T rs192215705 0.00158
NM_001001433.3(STX16):c.132+15G>A rs139859128 0.00147
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_000383.4(AIRE):c.1083C>T (p.Pro361=) rs201010030 0.00115
NM_000383.4(AIRE):c.510A>G (p.Ala170=) rs146992760 0.00113
NM_001370259.2(MEN1):c.30G>T (p.Leu10=) rs371192390 0.00111
NM_000383.4(AIRE):c.717C>T (p.Ser239=) rs149130190 0.00110
NM_001001433.3(STX16):c.*1790A>T rs145827696 0.00102
NM_000388.4(CASR):c.-154T>A rs186365367 0.00101
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met) rs72650677 0.00100
NM_000383.4(AIRE):c.789C>T (p.Gly263=) rs138066507 0.00099
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_000388.4(CASR):c.1285C>T (p.His429Tyr) rs142818334 0.00073
NM_001370259.2(MEN1):c.-22C>A rs374749001 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_000383.4(AIRE):c.447G>A (p.Arg149=) rs374704178 0.00069
NM_000383.4(AIRE):c.348G>A (p.Pro116=) rs74162060 0.00066
NM_002067.5(GNA11):c.885C>T (p.Phe295=) rs147368872 0.00065
NM_000388.4(CASR):c.906C>T (p.Ser302=) rs201067850 0.00063
NM_024529.5(CDC73):c.-11G>A rs80356643 0.00056
NM_000383.4(AIRE):c.1476C>T (p.Pro492=) rs72650679 0.00054
NM_000388.4(CASR):c.915C>A (p.Ile305=) rs200528343 0.00051
NM_001001433.3(STX16):c.585G>A (p.Gln195=) rs147137636 0.00048
NM_001370259.2(MEN1):c.1049+9C>T rs200517349 0.00048
NM_024529.5(CDC73):c.513-17A>C rs202192473 0.00046
NM_000388.4(CASR):c.1733-9A>G rs190731787 0.00044
NM_001370259.2(MEN1):c.18C>T (p.Ala6=) rs369348210 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.873C>T (p.Asn291=) rs149400412 0.00036
NM_000383.4(AIRE):c.521G>A (p.Arg174His) rs145732243 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_001001433.3(STX16):c.*3110G>T rs148669648 0.00028
NM_001001433.3(STX16):c.*1049G>A rs559176715 0.00027
NM_000383.4(AIRE):c.996-7C>T rs568895777 0.00026
NM_000383.4(AIRE):c.1483C>T (p.Leu495=) rs376909088 0.00024
NM_024529.5(CDC73):c.-10G>T rs188082584 0.00024
NM_024529.5(CDC73):c.1066+13A>G rs142414871 0.00023
NM_000383.4(AIRE):c.996-18T>C rs78245838 0.00020
NM_000388.4(CASR):c.*87C>T rs202045621 0.00020
NM_001370259.2(MEN1):c.*794G>A rs117705251 0.00020
NM_024529.5(CDC73):c.424-16C>T rs201012067 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_001001433.3(STX16):c.644A>T (p.His215Leu) rs185111037 0.00017
NM_000388.4(CASR):c.573G>A (p.Glu191=) rs141631116 0.00016
NM_001001433.3(STX16):c.*1652G>A rs186800651 0.00016
NM_001370259.2(MEN1):c.1508G>A (p.Gly503Asp) rs375804228 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_001370259.2(MEN1):c.1506G>C (p.Lys502Asn) rs774296730 0.00014
NM_001370259.2(MEN1):c.913-42G>C rs529037188 0.00013
NM_024529.5(CDC73):c.*2427T>C rs372585994 0.00013
NM_000388.4(CASR):c.2388G>A (p.Lys796=) rs200701164 0.00012
NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu) rs750112288 0.00012
NM_001370259.2(MEN1):c.1535C>T (p.Ser512Leu) rs141679530 0.00011
NM_001370259.2(MEN1):c.339C>T (p.Ser113=) rs559635859 0.00011
NM_001370259.2(MEN1):c.1638G>A (p.Pro546=) rs368783097 0.00010
NM_001370259.2(MEN1):c.492C>T (p.Ala164=) rs146759807 0.00010
NM_024529.5(CDC73):c.*2677G>A rs192018514 0.00010
NM_001001433.3(STX16):c.-160G>A rs368572667 0.00009
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp) rs143329068 0.00009
NM_001370259.2(MEN1):c.655-4del rs748005956 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_024529.5(CDC73):c.1154+18C>G rs145348897 0.00008
NM_000383.4(AIRE):c.652+15G>A rs760027964 0.00007
NM_000388.4(CASR):c.-111C>A rs201098532 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_024529.5(CDC73):c.*1083A>T rs367704451 0.00006
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.1434C>T (p.Gly478=) rs200280309 0.00004
NM_001370259.2(MEN1):c.784-10C>T rs71526470 0.00004
NM_000315.4(PTH):c.69G>A (p.Ser23=) rs377308600 0.00003
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=) rs587780841 0.00003
NM_001370259.2(MEN1):c.759G>A (p.Ser253=) rs201829546 0.00003
NM_024529.5(CDC73):c.450A>G (p.Lys150=) rs779144943 0.00002
NM_000388.4(CASR):c.2915C>T (p.Thr972Met) rs200620134 0.00001
NM_000388.4(CASR):c.537A>G (p.Gln179=) rs200129212 0.00001
NM_001001433.3(STX16):c.*539G>A rs571571425 0.00001
NM_001001433.3(STX16):c.217C>T (p.Arg73Trp) rs115046538 0.00001
NM_001001433.3(STX16):c.454G>A (p.Glu152Lys) rs759831553 0.00001
NM_001370259.2(MEN1):c.1186-6G>A rs576193460 0.00001
NM_001370259.2(MEN1):c.1399G>A (p.Ala467Thr) rs779589005 0.00001
NM_001370259.2(MEN1):c.843G>C (p.Gly281=) rs562620826 0.00001
NM_001370259.2(MEN1):c.913-8C>T rs373893527 0.00001
NM_024529.5(CDC73):c.*3063G>A rs182545034 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_000383.4(AIRE):c.1095+16del
NM_000383.4(AIRE):c.1095+78del rs5844181
NM_000383.4(AIRE):c.1207G>A (p.Ala403Thr) rs543891914
NM_000383.4(AIRE):c.1278+12G>A rs371283816
NM_000383.4(AIRE):c.132+22del
NM_000383.4(AIRE):c.1404G>A (p.Thr468=) rs7281600
NM_000383.4(AIRE):c.1404G>C (p.Thr468=) rs7281600
NM_000383.4(AIRE):c.464-16del
NM_000383.4(AIRE):c.798C>G (p.Pro266=) rs41277550
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg) rs1800520
NM_000388.4(CASR):c.*188dup rs33974189
NM_000388.4(CASR):c.*60A>T rs4677948
NM_000388.4(CASR):c.1164G>A (p.Ser388=) rs200898785
NM_000388.4(CASR):c.1665T>C (p.Ile555=) rs201955278
NM_000388.4(CASR):c.78C>G (p.Ala26=) rs77852524
NM_001001433.3(STX16):c.*1747G>C rs140662326
NM_001001433.3(STX16):c.*2627G>C rs76626612
NM_001001433.3(STX16):c.*2962C>T rs192204838
NM_001001433.3(STX16):c.-464G>A rs41296203
NM_001001433.3(STX16):c.106C>A (p.Pro36Thr) rs142560013
NM_001001433.3(STX16):c.540G>A (p.Gln180=) rs2296524
NM_001370259.2(MEN1):c.*126C>T rs138595686
NM_001370259.2(MEN1):c.1072GAG[1] (p.Glu359del) rs1060499971
NM_001370259.2(MEN1):c.1185+18C>T rs780329058
NM_001370259.2(MEN1):c.1212C>G (p.Leu404=) rs577268289
NM_001370259.2(MEN1):c.1648G>T (p.Val550Leu) rs562257963
NM_001370259.2(MEN1):c.591C>G (p.Thr197=) rs527294715
NM_001370259.2(MEN1):c.61C>A (p.Arg21Ser) rs541476418
NM_001370259.2(MEN1):c.654+18C>T rs180737290
NM_001370259.2(MEN1):c.654+18del rs112700230
NM_001370259.2(MEN1):c.654+18dup rs112700230
NM_001370259.2(MEN1):c.655-5del rs772016629
NM_001370259.2(MEN1):c.655-5dup rs772016629
NM_001370259.2(MEN1):c.655-6C>A rs77461664
NM_001370259.2(MEN1):c.655-6C>G rs77461664
NM_001370259.2(MEN1):c.655-6C>T rs77461664
NM_004752.3(GCM2):c.-74C>T rs2153156
NM_004752.4(GCM2):c.*521C>A rs6936637
NM_024529.5(CDC73):c.*3786T>A rs74130943
NM_024529.5(CDC73):c.*3786T>C rs74130943
NM_024529.5(CDC73):c.-4dup rs545666726
NM_024529.5(CDC73):c.1031-12del rs751580604
NM_024529.5(CDC73):c.1031-12dup rs751580604
NM_024529.5(CDC73):c.1155-6dup
NM_024529.5(CDC73):c.1418-17C>G rs11583414
NM_024529.5(CDC73):c.1560-4del
NM_024529.5(CDC73):c.1560-4dup rs761016442
NM_024529.5(CDC73):c.237+28T>C rs4466634
NM_024529.5(CDC73):c.308-11del
NM_024529.5(CDC73):c.829-5dup rs755393679
NM_024529.5(CDC73):c.908-6dup rs563805986

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