ClinVar Miner

List of variants studied for adrenal gland neoplasm by Baylor Genetics

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 294
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001370259.2(MEN1):c.-6G>A rs768088337 0.00023
NM_017841.4(SDHAF2):c.331G>A (p.Glu111Lys) rs145616631 0.00016
NM_001370259.2(MEN1):c.-23-135G>A rs587777949 0.00012
NM_002382.5(MAX):c.341A>C (p.Asn114Thr) rs772912674 0.00012
NM_017849.4(TMEM127):c.665C>T (p.Ala222Val) rs373951977 0.00012
NM_003000.3(SDHB):c.440A>G (p.Tyr147Cys) rs774568101 0.00010
NM_017849.4(TMEM127):c.88A>G (p.Ser30Gly) rs763476625 0.00010
NM_017841.4(SDHAF2):c.476A>C (p.Glu159Ala) rs140920079 0.00009
NM_017849.4(TMEM127):c.49A>G (p.Ser17Gly) rs1249001227 0.00008
NM_003000.3(SDHB):c.178A>G (p.Thr60Ala) rs34599281 0.00007
NM_004366.6(CLCN2):c.1934G>A (p.Arg645Gln) rs375401465 0.00007
NM_017841.4(SDHAF2):c.490A>G (p.Lys164Glu) rs150187184 0.00006
NM_017849.4(TMEM127):c.121A>G (p.Ile41Val) rs760633411 0.00006
NM_001370259.2(MEN1):c.1098A>T (p.Glu366Asp) rs149383809 0.00004
NM_001370259.2(MEN1):c.1594G>T (p.Gly532Cys) rs587780843 0.00004
NM_001370259.2(MEN1):c.774G>C (p.Gln258His) rs374659656 0.00004
NM_002382.5(MAX):c.56A>T (p.Gln19Leu) rs200547781 0.00004
NM_003000.3(SDHB):c.307A>G (p.Met103Val) rs140178341 0.00004
NM_003000.3(SDHB):c.695C>T (p.Ala232Val) rs746224555 0.00004
NM_017841.4(SDHAF2):c.139A>G (p.Met47Val) rs111402137 0.00004
NM_017841.4(SDHAF2):c.320G>A (p.Arg107His) rs535627239 0.00004
NM_017841.4(SDHAF2):c.52A>G (p.Arg18Gly) rs200911550 0.00004
NM_017849.4(TMEM127):c.145G>A (p.Ala49Thr) rs577020327 0.00004
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg) rs121908820 0.00004
NM_000546.6(TP53):c.467G>A (p.Arg156His) rs371524413 0.00003
NM_001370259.2(MEN1):c.1165C>T (p.Arg389Trp) rs566593066 0.00003
NM_001370259.2(MEN1):c.566A>G (p.Asn189Ser) rs587780844 0.00003
NM_001370259.2(MEN1):c.94C>T (p.Pro32Ser) rs773089218 0.00003
NM_017841.4(SDHAF2):c.391A>T (p.Ile131Leu) rs773580529 0.00003
NM_017849.4(TMEM127):c.379C>T (p.Arg127Cys) rs746883021 0.00003
NM_017849.4(TMEM127):c.464T>A (p.Leu155Ter) rs886039439 0.00003
NM_000546.6(TP53):c.466C>T (p.Arg156Cys) rs563378859 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_001365951.3(KIF1B):c.3434G>A (p.Arg1145His) rs373663596 0.00002
NM_001370259.2(MEN1):c.1012C>G (p.Leu338Val) rs759337318 0.00002
NM_001370259.2(MEN1):c.1522C>A (p.Gln508Lys) rs386833403 0.00002
NM_001370259.2(MEN1):c.989G>A (p.Arg330His) rs373135175 0.00002
NM_002382.5(MAX):c.329A>C (p.Gln110Pro) rs775808138 0.00002
NM_002382.5(MAX):c.397G>A (p.Ala133Thr) rs750459929 0.00002
NM_017841.4(SDHAF2):c.221G>A (p.Ser74Asn) rs1060503389 0.00002
NM_017841.4(SDHAF2):c.313T>A (p.Tyr105Asn) rs1485358364 0.00002
NM_017849.4(TMEM127):c.289G>A (p.Ala97Thr) rs752938517 0.00002
NM_017849.4(TMEM127):c.427G>A (p.Val143Ile) rs772153618 0.00002
NM_017849.4(TMEM127):c.52C>T (p.Pro18Ser) rs1452142786 0.00002
NM_000546.6(TP53):c.1001G>A (p.Gly334Glu) rs1286563734 0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 0.00001
NM_000546.6(TP53):c.1048C>G (p.Leu350Val) rs768046010 0.00001
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.375G>A (p.Thr125=) rs55863639 0.00001
NM_000546.6(TP53):c.38C>T (p.Pro13Leu) rs878854070 0.00001
NM_000546.6(TP53):c.393C>A (p.Asn131Lys) rs769270327 0.00001
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) rs587782705 0.00001
NM_000546.6(TP53):c.461G>A (p.Gly154Asp) rs762846821 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000546.6(TP53):c.535C>T (p.His179Tyr) rs587780070 0.00001
NM_000546.6(TP53):c.541C>T (p.Arg181Cys) rs587782596 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.560-1G>A rs1202793339 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.711G>A (p.Met237Ile) rs587782664 0.00001
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) rs730882005 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr) rs863224451 0.00001
NM_000546.6(TP53):c.848G>A (p.Arg283His) rs371409680 0.00001
NM_001370259.2(MEN1):c.1025C>T (p.Ala342Val) rs377715802 0.00001
NM_001370259.2(MEN1):c.1138G>A (p.Ala380Thr) rs1225964479 0.00001
NM_001370259.2(MEN1):c.1159G>A (p.Glu387Lys) rs773978650 0.00001
NM_001370259.2(MEN1):c.1580G>A (p.Arg527Gln) rs1085307502 0.00001
NM_001370259.2(MEN1):c.1777T>C (p.Ser593Pro) rs1411766225 0.00001
NM_001370259.2(MEN1):c.210C>A (p.Asp70Glu) rs150308912 0.00001
NM_001370259.2(MEN1):c.329G>A (p.Gly110Glu) rs1389398299 0.00001
NM_001370259.2(MEN1):c.344G>A (p.Arg115His) rs1114167507 0.00001
NM_001370259.2(MEN1):c.568G>A (p.Gly190Arg) rs1555165742 0.00001
NM_001370259.2(MEN1):c.655-5C>G rs752563214 0.00001
NM_001370259.2(MEN1):c.710C>T (p.Ala237Val) rs760289964 0.00001
NM_001370259.2(MEN1):c.839T>C (p.Leu280Ser) rs368619946 0.00001
NM_002382.5(MAX):c.299G>A (p.Arg100His) rs776978293 0.00001
NM_002382.5(MAX):c.410G>A (p.Gly137Asp) rs771696396 0.00001
NM_002382.5(MAX):c.425C>T (p.Ser142Leu) rs760147253 0.00001
NM_002382.5(MAX):c.466C>T (p.Arg156Trp) rs768360710 0.00001
NM_017841.4(SDHAF2):c.11C>G (p.Ser4Cys) rs778449586 0.00001
NM_017841.4(SDHAF2):c.260+3A>G rs1445986287 0.00001
NM_017841.4(SDHAF2):c.341A>G (p.Asn114Ser) rs747022200 0.00001
NM_017841.4(SDHAF2):c.371-2A>G rs375280597 0.00001
NM_017841.4(SDHAF2):c.410T>A (p.Met137Lys) rs367574730 0.00001
NM_017841.4(SDHAF2):c.454A>G (p.Arg152Gly) rs1056273933 0.00001
NM_017841.4(SDHAF2):c.96A>T (p.Arg32Ser) rs952830677 0.00001
NM_017849.4(TMEM127):c.101C>G (p.Ala34Gly) rs1451389209 0.00001
NM_017849.4(TMEM127):c.10C>T (p.Pro4Ser) rs1024081498 0.00001
NM_017849.4(TMEM127):c.133T>A (p.Cys45Ser) rs995979769 0.00001
NM_017849.4(TMEM127):c.166A>G (p.Ile56Val) rs751779219 0.00001
NM_017849.4(TMEM127):c.172G>A (p.Gly58Arg) rs764136807 0.00001
NM_017849.4(TMEM127):c.353C>T (p.Pro118Leu) rs769359648 0.00001
NM_017849.4(TMEM127):c.383G>A (p.Arg128His) rs779277417 0.00001
NM_017849.4(TMEM127):c.469C>T (p.Gln157Ter) rs780133289 0.00001
NM_017849.4(TMEM127):c.506T>A (p.Val169Asp) rs1364190464 0.00001
NM_017849.4(TMEM127):c.62G>A (p.Ser21Asn) rs1348645128 0.00001
NM_017849.4(TMEM127):c.642G>T (p.Met214Ile) rs1485424649 0.00001
NM_017849.4(TMEM127):c.67C>A (p.Leu23Met) rs749807415 0.00001
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys) rs587782529
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.6(TP53):c.1029G>C (p.Glu343Asp)
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) rs121912662
NM_000546.6(TP53):c.1081G>C (p.Gly361Arg) rs1555524361
NM_000546.6(TP53):c.1120G>A (p.Gly374Ser) rs587781858
NM_000546.6(TP53):c.1145A>C (p.Lys382Thr) rs2072835191
NM_000546.6(TP53):c.158G>A (p.Trp53Ter) rs876658483
NM_000546.6(TP53):c.159G>A (p.Trp53Ter) rs1064794618
NM_000546.6(TP53):c.245_260del (p.Pro82fs)
NM_000546.6(TP53):c.272G>A (p.Trp91Ter) rs2073465664
NM_000546.6(TP53):c.322G>A (p.Gly108Ser) rs587782461
NM_000546.6(TP53):c.322G>C (p.Gly108Arg) rs587782461
NM_000546.6(TP53):c.329G>C (p.Arg110Pro) rs11540654
NM_000546.6(TP53):c.375G>C (p.Thr125=) rs55863639
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter) rs1567554500
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.6(TP53):c.388C>G (p.Leu130Val) rs863224683
NM_000546.6(TP53):c.394A>C (p.Lys132Gln) rs747342068
NM_000546.6(TP53):c.406C>T (p.Gln136Ter)
NM_000546.6(TP53):c.413C>T (p.Ala138Val) rs750600586
NM_000546.6(TP53):c.427G>A (p.Val143Met) rs587782620
NM_000546.6(TP53):c.440T>A (p.Val147Asp) rs1453167097
NM_000546.6(TP53):c.445T>C (p.Ser149Pro)
NM_000546.6(TP53):c.448_460del (p.Thr150fs) rs1064792930
NM_000546.6(TP53):c.476C>T (p.Ala159Val) rs1555526131
NM_000546.6(TP53):c.47A>G (p.Gln16Arg) rs2073520057
NM_000546.6(TP53):c.481G>A (p.Ala161Thr) rs193920817
NM_000546.6(TP53):c.487T>C (p.Tyr163His) rs786203436
NM_000546.6(TP53):c.48G>C (p.Gln16His) rs1597376489
NM_000546.6(TP53):c.499C>T (p.Gln167Ter) rs1555526097
NM_000546.6(TP53):c.518T>G (p.Val173Gly) rs1057519747
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.6(TP53):c.532del (p.His178fs) rs786202525
NM_000546.6(TP53):c.533A>C (p.His178Pro) rs1555526004
NM_000546.6(TP53):c.535C>G (p.His179Asp) rs587780070
NM_000546.6(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_000546.6(TP53):c.559+1G>A rs1131691042
NM_000546.6(TP53):c.559+5G>C rs1555525956
NM_000546.6(TP53):c.574C>G (p.Gln192Glu)
NM_000546.6(TP53):c.575A>G (p.Gln192Arg) rs730882002
NM_000546.6(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.6(TP53):c.586C>T (p.Arg196Ter) rs397516435
NM_000546.6(TP53):c.617T>G (p.Leu206Trp)
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.6(TP53):c.644G>A (p.Ser215Asn) rs587782177
NM_000546.6(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.6(TP53):c.658T>C (p.Tyr220His) rs530941076
NM_000546.6(TP53):c.671A>G (p.Glu224Gly) rs1131691028
NM_000546.6(TP53):c.672+1G>A rs863224499
NM_000546.6(TP53):c.711G>T (p.Met237Ile) rs587782664
NM_000546.6(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_000546.6(TP53):c.717C>G (p.Asn239Lys) rs1057522275
NM_000546.6(TP53):c.717del (p.Asn239fs)
NM_000546.6(TP53):c.722_728del (p.Ser241fs)
NM_000546.6(TP53):c.728T>C (p.Met243Thr) rs730882006
NM_000546.6(TP53):c.730G>A (p.Gly244Ser) rs1057519989
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000546.6(TP53):c.734G>T (p.Gly245Val) rs121912656
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.6(TP53):c.745A>T (p.Arg249Trp) rs587782082
NM_000546.6(TP53):c.748C>G (p.Pro250Ala)
NM_000546.6(TP53):c.783-10T>G
NM_000546.6(TP53):c.799C>G (p.Arg267Gly)
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.809T>G (p.Phe270Cys) rs1057519986
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr) rs763098116
NM_000546.6(TP53):c.835G>A (p.Gly279Arg) rs1555525248
NM_000546.6(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_000546.6(TP53):c.842A>C (p.Asp281Ala) rs587781525
NM_000546.6(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.6(TP53):c.845G>T (p.Arg282Leu) rs730882008
NM_000546.6(TP53):c.851C>G (p.Thr284Arg)
NM_000546.6(TP53):c.871A>G (p.Lys291Glu) rs1555525126
NM_000546.6(TP53):c.876A>T (p.Lys292Asn)
NM_000546.6(TP53):c.893A>C (p.Glu298Ala)
NM_000546.6(TP53):c.934A>G (p.Thr312Ala)
NM_000546.6(TP53):c.950A>T (p.Gln317Leu) rs1159579789
NM_000546.6(TP53):c.965C>G (p.Pro322Arg)
NM_000546.6(TP53):c.967C>G (p.Leu323Val)
NM_000546.6(TP53):c.97-11C>G rs769697802
NM_000546.6(TP53):c.974G>A (p.Gly325Glu) rs121912659
NM_000546.6(TP53):c.978A>T (p.Glu326Asp) rs1000256867
NM_000546.6(TP53):c.97_99del (p.Ser33del)
NM_001370259.2(MEN1):c.1003C>T (p.Arg335Trp) rs371364206
NM_001370259.2(MEN1):c.1049+1G>A rs1114167489
NM_001370259.2(MEN1):c.1050-3C>G
NM_001370259.2(MEN1):c.1055A>G (p.Asn352Ser)
NM_001370259.2(MEN1):c.1117C>A (p.Pro373Thr) rs794728627
NM_001370259.2(MEN1):c.1121A>C (p.Asn374Thr)
NM_001370259.2(MEN1):c.1126C>A (p.Leu376Met)
NM_001370259.2(MEN1):c.1154C>T (p.Ala385Val) rs1298484645
NM_001370259.2(MEN1):c.1202G>T (p.Gly401Val) rs878855186
NM_001370259.2(MEN1):c.1247_1254del (p.Phe416fs) rs1114167542
NM_001370259.2(MEN1):c.1252G>A (p.Asp418Asn) rs104894264
NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr) rs386134249
NM_001370259.2(MEN1):c.135G>C (p.Glu45Asp) rs778670301
NM_001370259.2(MEN1):c.1366C>A (p.Arg456Ser)
NM_001370259.2(MEN1):c.1379G>C (p.Arg460Pro) rs200035619
NM_001370259.2(MEN1):c.1387G>A (p.Glu463Lys) rs748102589
NM_001370259.2(MEN1):c.1397_1410del (p.Glu466fs)
NM_001370259.2(MEN1):c.1399G>T (p.Ala467Ser)
NM_001370259.2(MEN1):c.1427G>A (p.Arg476Gln) rs753185026
NM_001370259.2(MEN1):c.1441C>T (p.Arg481Trp)
NM_001370259.2(MEN1):c.1502A>T (p.Asp501Val)
NM_001370259.2(MEN1):c.1541C>G (p.Pro514Arg) rs753022747
NM_001370259.2(MEN1):c.1648G>T (p.Val550Leu) rs562257963
NM_001370259.2(MEN1):c.1682T>C (p.Met561Thr) rs1941501393
NM_001370259.2(MEN1):c.1699G>C (p.Ala567Pro) rs1555163185
NM_001370259.2(MEN1):c.1735C>T (p.Leu579Phe) rs1328296968
NM_001370259.2(MEN1):c.196A>C (p.Ser66Arg) rs1942005110
NM_001370259.2(MEN1):c.196_200dup (p.Asp70fs) rs1555166609
NM_001370259.2(MEN1):c.205C>T (p.Pro69Ser) rs1060499995
NM_001370259.2(MEN1):c.208G>A (p.Asp70Asn) rs1283021293
NM_001370259.2(MEN1):c.244G>T (p.Asp82Tyr)
NM_001370259.2(MEN1):c.249_252del (p.Ile85fs) rs587776841
NM_001370259.2(MEN1):c.253A>G (p.Ile85Val)
NM_001370259.2(MEN1):c.259G>A (p.Ala87Thr)
NM_001370259.2(MEN1):c.281C>T (p.Thr94Ile) rs1565651820
NM_001370259.2(MEN1):c.313C>G (p.Leu105Val) rs1941990096
NM_001370259.2(MEN1):c.319C>G (p.Pro107Ala)
NM_001370259.2(MEN1):c.320dup (p.Arg108fs)
NM_001370259.2(MEN1):c.355AAG[1] (p.Lys120del) rs794728657
NM_001370259.2(MEN1):c.418A>T (p.Ile140Phe) rs376510601
NM_001370259.2(MEN1):c.432C>G (p.Phe144Leu)
NM_001370259.2(MEN1):c.443C>T (p.Thr148Ile)
NM_001370259.2(MEN1):c.44C>G (p.Ser15Cys) rs1056705868
NM_001370259.2(MEN1):c.577A>G (p.Thr193Ala)
NM_001370259.2(MEN1):c.638C>G (p.Ala213Gly)
NM_001370259.2(MEN1):c.653G>A (p.Arg218Gln) rs1423517569
NM_001370259.2(MEN1):c.668T>C (p.Leu223Pro) rs886039415
NM_001370259.2(MEN1):c.682A>G (p.Met228Val) rs1060499982
NM_001370259.2(MEN1):c.691G>C (p.Asp231His) rs1941827572
NM_001370259.2(MEN1):c.751A>G (p.Thr251Ala)
NM_001370259.2(MEN1):c.754G>C (p.Asp252His) rs770368608
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu) rs386134259
NM_001370259.2(MEN1):c.809T>C (p.Leu270Pro) rs1592647333
NM_001370259.2(MEN1):c.92A>T (p.Glu31Val) rs1060499977
NM_001370259.2(MEN1):c.958C>T (p.Pro320Ser) rs1941726727
NM_001370259.2(MEN1):c.964A>T (p.Met322Leu) rs1555165089
NM_001370259.2(MEN1):c.970del (p.Leu324fs) rs1114167508
NM_002382.5(MAX):c.196A>G (p.Lys66Glu)
NM_002382.5(MAX):c.266A>C (p.Lys89Thr)
NM_002382.5(MAX):c.357C>A (p.Asp119Glu)
NM_002382.5(MAX):c.406G>C (p.Gly136Arg) rs140490467
NM_002382.5(MAX):c.413C>T (p.Ser138Leu) rs1176118785
NM_002382.5(MAX):c.64G>T (p.Ala22Ser)
NM_003000.3(SDHB):c.166_170del (p.Pro56fs) rs786202100
NM_003000.3(SDHB):c.191A>G (p.Asp64Gly) rs200131173
NM_003000.3(SDHB):c.73-29del rs745905902
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg) rs876658477
NM_004168.4(SDHA):c.1183G>A (p.Val395Ile) rs748683825
NM_017841.4(SDHAF2):c.173G>A (p.Arg58Lys)
NM_017841.4(SDHAF2):c.196A>G (p.Lys66Glu) rs371977724
NM_017841.4(SDHAF2):c.199A>G (p.Arg67Gly) rs1862011610
NM_017841.4(SDHAF2):c.229_230del (p.Arg77fs) rs1336819076
NM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg) rs113560320
NM_017841.4(SDHAF2):c.235A>G (p.Met79Val) rs781702725
NM_017841.4(SDHAF2):c.25A>G (p.Thr9Ala) rs1554983610
NM_017841.4(SDHAF2):c.301C>T (p.Gln101Ter)
NM_017841.4(SDHAF2):c.305_306insA (p.Asn103fs) rs753554501
NM_017841.4(SDHAF2):c.330C>A (p.Asn110Lys) rs779335034
NM_017841.4(SDHAF2):c.355dup (p.Tyr119fs) rs1456129845
NM_017841.4(SDHAF2):c.36G>T (p.Leu12=)
NM_017841.4(SDHAF2):c.371-4G>C
NM_017841.4(SDHAF2):c.39G>C (p.Met13Ile)
NM_017841.4(SDHAF2):c.5C>A (p.Ala2Glu)
NM_017841.4(SDHAF2):c.71C>T (p.Pro24Leu)
NM_017849.4(TMEM127):c.110G>A (p.Gly37Asp)
NM_017849.4(TMEM127):c.112G>T (p.Ala38Ser) rs1456398772
NM_017849.4(TMEM127):c.117_120del (p.Ile41fs) rs121908816
NM_017849.4(TMEM127):c.130C>G (p.Leu44Val)
NM_017849.4(TMEM127):c.13G>A (p.Gly5Arg) rs786202314
NM_017849.4(TMEM127):c.248del (p.Phe83fs) rs587781773
NM_017849.4(TMEM127):c.24_32del (p.Leu9_Gly11del) rs1684396239
NM_017849.4(TMEM127):c.265_268del (p.Thr89fs) rs121908822
NM_017849.4(TMEM127):c.29C>T (p.Pro10Leu)
NM_017849.4(TMEM127):c.340G>C (p.Asp114His)
NM_017849.4(TMEM127):c.37C>T (p.Arg13Cys)
NM_017849.4(TMEM127):c.416A>G (p.Gln139Arg)
NM_017849.4(TMEM127):c.433G>A (p.Gly145Ser)
NM_017849.4(TMEM127):c.443A>T (p.Tyr148Phe) rs1684152230
NM_017849.4(TMEM127):c.44G>T (p.Arg15Leu) rs2104308338
NM_017849.4(TMEM127):c.526A>G (p.Ser176Gly) rs1553436876
NM_017849.4(TMEM127):c.545G>C (p.Gly182Ala) rs761885719
NM_017849.4(TMEM127):c.568G>A (p.Ala190Thr) rs373781978
NM_017849.4(TMEM127):c.598C>A (p.Pro200Thr) rs200351681
NM_017849.4(TMEM127):c.61A>T (p.Ser21Cys)
NM_017849.4(TMEM127):c.643G>C (p.Glu215Gln)
NM_017849.4(TMEM127):c.674A>G (p.Glu225Gly) rs1684140913

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.