ClinVar Miner

List of variants studied for Hereditary Paraganglioma-Pheochromocytoma Syndromes by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 469
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HGVS dbSNP
NC_000002.11:g.(?_96919536)_(96931129_?)dup
NC_000002.11:g.(?_96919540)_(96931125_?)dup
NC_000002.12:g.(?_96253798)_(96265391_?)del
NC_000002.12:g.(?_96253808)_(96265399_?)del
NC_000002.12:g.(?_96253808)_(96265399_?)dup
NC_000002.12:g.(?_96265128)_(96265399_?)dup
NC_000011.10:g.(?_61437615)_(61446071_?)dup
NC_000011.9:g.(?_61205087)_(61213553_?)dup
NC_000014.9:g.(?_65076466)_(65102349_?)dup
NC_000014.9:g.(?_65093698)_(65102349_?)del
NC_000014.9:g.(?_65093702)_(65102345_?)del
NC_000014.9:g.(?_65101536)_(65102349_?)del
NC_000014.9:g.(?_65101546)_(65102544_?)del
NM_001193304.3(TMEM127):c.117_120del (p.Ile41fs) rs121908816
NM_001193304.3(TMEM127):c.217G>C (p.Gly73Arg) rs121908820
NM_001193304.3(TMEM127):c.268G>A (p.Val90Met) rs121908823
NM_001193304.3(TMEM127):c.398A>G (p.His133Arg) rs587782203
NM_002382.5(MAX):c.102A>G (p.Lys34=) rs1060503836
NM_002382.5(MAX):c.120del (p.Asp41fs) rs1595166895
NM_002382.5(MAX):c.133A>G (p.Ser45Gly) rs780865640
NM_002382.5(MAX):c.138G>C (p.Leu46Phe) rs1595166865
NM_002382.5(MAX):c.171+4A>G
NM_002382.5(MAX):c.171+6T>C rs1060500098
NM_002382.5(MAX):c.172G>A (p.Ala58Thr)
NM_002382.5(MAX):c.177C>G (p.Ser59=) rs781103630
NM_002382.5(MAX):c.178C>T (p.Arg60Trp)
NM_002382.5(MAX):c.179G>A (p.Arg60Gln)
NM_002382.5(MAX):c.211_221del (p.Ile71fs) rs1060500101
NM_002382.5(MAX):c.218A>G (p.Tyr73Cys)
NM_002382.5(MAX):c.219T>A (p.Tyr73Ter) rs1193255946
NM_002382.5(MAX):c.21C>A (p.Ile7=) rs760248675
NM_002382.5(MAX):c.21C>G (p.Ile7Met) rs760248675
NM_002382.5(MAX):c.223C>T (p.Arg75Ter) rs387906650
NM_002382.5(MAX):c.228del (p.Asn78fs) rs1555340550
NM_002382.5(MAX):c.236_237AC[5] (p.Gln82fs)
NM_002382.5(MAX):c.244C>G (p.Gln82Glu)
NM_002382.5(MAX):c.246G>C (p.Gln82His)
NM_002382.5(MAX):c.258C>T (p.Asp86=) rs780385213
NM_002382.5(MAX):c.259G>A (p.Asp87Asn) rs758700113
NM_002382.5(MAX):c.25G>T (p.Val9Leu) rs201743423
NM_002382.5(MAX):c.268C>T (p.Arg90Trp) rs1060500099
NM_002382.5(MAX):c.277G>C (p.Ala93Pro) rs1555340540
NM_002382.5(MAX):c.279T>C (p.Ala93=) rs145370107
NM_002382.5(MAX):c.280C>A (p.Leu94Ile)
NM_002382.5(MAX):c.280C>G (p.Leu94Val)
NM_002382.5(MAX):c.284T>C (p.Leu95Pro) rs878854499
NM_002382.5(MAX):c.285G>A (p.Leu95=) rs878854500
NM_002382.5(MAX):c.289C>T (p.Gln97Ter) rs1167538050
NM_002382.5(MAX):c.295+10C>T rs375446224
NM_002382.5(MAX):c.295+2_295+3del
NM_002382.5(MAX):c.295+6C>T rs146552320
NM_002382.5(MAX):c.295+8C>G rs754409025
NM_002382.5(MAX):c.296-1G>A rs1555340265
NM_002382.5(MAX):c.298C>T (p.Arg100Cys) rs762084527
NM_002382.5(MAX):c.299G>A (p.Arg100His) rs776978293
NM_002382.5(MAX):c.301G>A (p.Ala101Thr)
NM_002382.5(MAX):c.308A>G (p.Glu103Gly) rs1595127413
NM_002382.5(MAX):c.314C>T (p.Ala105Val) rs769051095
NM_002382.5(MAX):c.328C>G (p.Gln110Glu)
NM_002382.5(MAX):c.329A>C (p.Gln110Pro) rs775808138
NM_002382.5(MAX):c.331C>G (p.Leu111Val) rs748675729
NM_002382.5(MAX):c.337A>T (p.Thr113Ser) rs1060500100
NM_002382.5(MAX):c.341A>C (p.Asn114Thr) rs772912674
NM_002382.5(MAX):c.341A>G (p.Asn114Ser) rs772912674
NM_002382.5(MAX):c.344A>G (p.Tyr115Cys)
NM_002382.5(MAX):c.346C>G (p.Pro116Ala) rs1186625283
NM_002382.5(MAX):c.349T>G (p.Ser117Ala)
NM_002382.5(MAX):c.34G>T (p.Asp12Tyr)
NM_002382.5(MAX):c.351C>T (p.Ser117=) rs1555340215
NM_002382.5(MAX):c.353C>T (p.Ser118Leu)
NM_002382.5(MAX):c.359A>G (p.Asn120Ser) rs80206158
NM_002382.5(MAX):c.36+10G>C rs1421908769
NM_002382.5(MAX):c.36+9T>C rs774467253
NM_002382.5(MAX):c.360C>A (p.Asn120Lys) rs1555340209
NM_002382.5(MAX):c.37-4C>T rs747811786
NM_002382.5(MAX):c.375C>T (p.Asn125=) rs370238588
NM_002382.5(MAX):c.376G>A (p.Ala126Thr) rs779789251
NM_002382.5(MAX):c.376G>T (p.Ala126Ser)
NM_002382.5(MAX):c.380A>G (p.Lys127Arg)
NM_002382.5(MAX):c.384C>A (p.Gly128=) rs1555340201
NM_002382.5(MAX):c.388A>G (p.Thr130Ala) rs1566598180
NM_002382.5(MAX):c.391A>G (p.Ile131Val) rs1595127131
NM_002382.5(MAX):c.397G>A (p.Ala133Thr) rs750459929
NM_002382.5(MAX):c.402C>T (p.Phe134=) rs765370870
NM_002382.5(MAX):c.403G>A (p.Asp135Asn) rs201312694
NM_002382.5(MAX):c.403G>C (p.Asp135His) rs201312694
NM_002382.5(MAX):c.406G>A (p.Gly136Arg) rs140490467
NM_002382.5(MAX):c.410G>A (p.Gly137Asp) rs771696396
NM_002382.5(MAX):c.414G>A (p.Ser138=) rs559090673
NM_002382.5(MAX):c.415G>A (p.Asp139Asn) rs772397458
NM_002382.5(MAX):c.41A>G (p.Glu14Gly) rs876660888
NM_002382.5(MAX):c.422G>C (p.Ser141Thr)
NM_002382.5(MAX):c.425C>T (p.Ser142Leu) rs760147253
NM_002382.5(MAX):c.426G>A (p.Ser142=) rs145787299
NM_002382.5(MAX):c.432T>A (p.Ser144=) rs1485899939
NM_002382.5(MAX):c.439G>A (p.Glu147Lys)
NM_002382.5(MAX):c.442dup (p.Glu148fs) rs1566597938
NM_002382.5(MAX):c.462G>A (p.Lys154=) rs1203172320
NM_002382.5(MAX):c.466C>T (p.Arg156Trp) rs768360710
NM_002382.5(MAX):c.467G>A (p.Arg156Gln) rs876659544
NM_002382.5(MAX):c.56A>T (p.Gln19Leu) rs200547781
NM_002382.5(MAX):c.57A>G (p.Gln19=) rs1395966308
NM_002382.5(MAX):c.63+8T>C rs776724315
NM_002382.5(MAX):c.6C>T (p.Ser2=) rs138539686
NM_002382.5(MAX):c.71A>G (p.Lys24Arg)
NM_002382.5(MAX):c.87T>C (p.Asn29=) rs771488967
NM_002382.5(MAX):c.97C>T (p.Arg33Ter) rs387906651
NM_017841.2(SDHAF2):c.106A>G (p.Arg36Gly) rs1413272315
NM_017841.2(SDHAF2):c.109G>T (p.Gly37Cys) rs868016844
NM_017841.2(SDHAF2):c.11C>G (p.Ser4Cys) rs778449586
NM_017841.2(SDHAF2):c.130_132del (p.Gln44del) rs1590764793
NM_017841.2(SDHAF2):c.133A>G (p.Lys45Glu) rs368945911
NM_017841.2(SDHAF2):c.136G>A (p.Asp46Asn) rs1590764803
NM_017841.2(SDHAF2):c.138C>G (p.Asp46Glu) rs969049910
NM_017841.2(SDHAF2):c.139A>G (p.Met47Val) rs111402137
NM_017841.2(SDHAF2):c.13A>G (p.Thr5Ala) rs775763888
NM_017841.2(SDHAF2):c.145_147del (p.Glu49del) rs749431351
NM_017841.2(SDHAF2):c.153T>G (p.Pro51=) rs769950627
NM_017841.2(SDHAF2):c.156G>A (p.Leu52=) rs773466310
NM_017841.2(SDHAF2):c.157C>T (p.Pro53Ser) rs1060503390
NM_017841.2(SDHAF2):c.158C>T (p.Pro53Leu) rs562958122
NM_017841.2(SDHAF2):c.15A>G (p.Thr5=) rs144511254
NM_017841.2(SDHAF2):c.177dup (p.Asp60Ter) rs1554984631
NM_017841.2(SDHAF2):c.194C>T (p.Thr65Ile) rs752462796
NM_017841.2(SDHAF2):c.205C>T (p.Arg69Cys) rs532255760
NM_017841.2(SDHAF2):c.206G>A (p.Arg69His) rs753474292
NM_017841.2(SDHAF2):c.218A>C (p.Glu73Ala) rs1554984643
NM_017841.2(SDHAF2):c.21C>T (p.Phe7=) rs892955355
NM_017841.2(SDHAF2):c.221G>A (p.Ser74Asn) rs1060503389
NM_017841.2(SDHAF2):c.232G>A (p.Gly78Arg) rs113560320
NM_017841.2(SDHAF2):c.239T>C (p.Leu80Ser) rs376560419
NM_017841.2(SDHAF2):c.240G>A (p.Leu80=) rs1223446048
NM_017841.2(SDHAF2):c.248G>T (p.Cys83Phe) rs982336783
NM_017841.2(SDHAF2):c.24G>A (p.Ser8=) rs764251580
NM_017841.2(SDHAF2):c.253C>A (p.Leu85Ile) rs1300112394
NM_017841.2(SDHAF2):c.25A>G (p.Thr9Ala) rs1554983610
NM_017841.2(SDHAF2):c.260+1G>A rs749527870
NM_017841.2(SDHAF2):c.260+3A>G rs1445986287
NM_017841.2(SDHAF2):c.261-2A>T rs745989557
NM_017841.2(SDHAF2):c.264T>G (p.Leu88=) rs1554984669
NM_017841.2(SDHAF2):c.286C>T (p.His96Tyr) rs755605816
NM_017841.2(SDHAF2):c.294A>G (p.Thr98=) rs762441285
NM_017841.2(SDHAF2):c.29C>T (p.Ser10Leu) rs1590759653
NM_017841.2(SDHAF2):c.2T>C (p.Met1Thr) rs1060503392
NM_017841.2(SDHAF2):c.305_306insA (p.Asn103fs) rs753554501
NM_017841.2(SDHAF2):c.313T>A (p.Tyr105Asn) rs1485358364
NM_017841.2(SDHAF2):c.314A>G (p.Tyr105Cys) rs1402726087
NM_017841.2(SDHAF2):c.319C>T (p.Arg107Cys) rs140191819
NM_017841.2(SDHAF2):c.320G>A (p.Arg107His) rs535627239
NM_017841.2(SDHAF2):c.327T>A (p.Ile109=) rs757670376
NM_017841.2(SDHAF2):c.327T>G (p.Ile109Met) rs757670376
NM_017841.2(SDHAF2):c.32C>T (p.Ser11Leu) rs148425779
NM_017841.2(SDHAF2):c.330C>A (p.Asn110Lys) rs779335034
NM_017841.2(SDHAF2):c.331G>A (p.Glu111Lys) rs145616631
NM_017841.2(SDHAF2):c.341A>G (p.Asn114Ser) rs747022200
NM_017841.2(SDHAF2):c.347G>A (p.Trp116Ter) rs876658350
NM_017841.2(SDHAF2):c.348G>C (p.Trp116Cys) rs1590765145
NM_017841.2(SDHAF2):c.350A>T (p.Asp117Val) rs151040226
NM_017841.2(SDHAF2):c.355dup (p.Tyr119fs) rs1456129845
NM_017841.2(SDHAF2):c.35T>C (p.Leu12Pro) rs1590759677
NM_017841.2(SDHAF2):c.36+10G>A rs114207859
NM_017841.2(SDHAF2):c.36+5G>A rs1590759705
NM_017841.2(SDHAF2):c.360C>T (p.Tyr120=) rs1328610836
NM_017841.2(SDHAF2):c.37-7A>G rs1554984610
NM_017841.2(SDHAF2):c.370+4C>G rs758935566
NM_017841.2(SDHAF2):c.370+6G>A rs1565128722
NM_017841.2(SDHAF2):c.370+8G>C rs764742919
NM_017841.2(SDHAF2):c.370G>A (p.Glu124Lys) rs1237175697
NM_017841.2(SDHAF2):c.371-2A>G rs375280597
NM_017841.2(SDHAF2):c.37A>T (p.Met13Leu) rs1361460244
NM_017841.2(SDHAF2):c.383C>T (p.Ala128Val) rs1554985400
NM_017841.2(SDHAF2):c.385C>T (p.Pro129Ser) rs1060503391
NM_017841.2(SDHAF2):c.391A>T (p.Ile131Leu) rs773580529
NM_017841.2(SDHAF2):c.410T>A (p.Met137Lys) rs367574730
NM_017841.2(SDHAF2):c.415C>A (p.Leu139Met) rs1565130851
NM_017841.2(SDHAF2):c.427T>A (p.Phe143Ile) rs755233768
NM_017841.2(SDHAF2):c.430G>A (p.Ala144Thr) rs572576746
NM_017841.2(SDHAF2):c.43G>T (p.Ala15Ser) rs1002894711
NM_017841.2(SDHAF2):c.446_447del (p.Lys149fs) rs772219112
NM_017841.2(SDHAF2):c.449A>G (p.Glu150Gly) rs1363376859
NM_017841.2(SDHAF2):c.453G>A (p.Gln151=) rs1271900425
NM_017841.2(SDHAF2):c.458T>C (p.Leu153Pro) rs753711279
NM_017841.2(SDHAF2):c.460C>T (p.Arg154Cys) rs778585796
NM_017841.2(SDHAF2):c.464C>T (p.Ala155Val) rs1245083102
NM_017841.2(SDHAF2):c.465C>T (p.Ala155=) rs758154733
NM_017841.2(SDHAF2):c.476A>C (p.Glu159Ala) rs140920079
NM_017841.2(SDHAF2):c.490A>G (p.Lys164Glu) rs150187184
NM_017841.2(SDHAF2):c.496C>T (p.Arg166Cys) rs968303021
NM_017841.2(SDHAF2):c.497G>A (p.Arg166His) rs768048172
NM_017841.2(SDHAF2):c.52A>G (p.Arg18Gly) rs200911550
NM_017841.2(SDHAF2):c.60C>A (p.Ser20Arg) rs1565128479
NM_017841.2(SDHAF2):c.63A>G (p.Leu21=) rs191513932
NM_017841.2(SDHAF2):c.6G>A (p.Ala2=) rs747571875
NM_017841.2(SDHAF2):c.6G>T (p.Ala2=) rs747571875
NM_017841.2(SDHAF2):c.7G>T (p.Val3Leu) rs149277592
NM_017841.2(SDHAF2):c.80G>A (p.Ser27Asn) rs759472787
NM_017841.2(SDHAF2):c.97C>T (p.Arg33Cys) rs144867876
NM_017841.2(SDHAF2):c.98G>A (p.Arg33His) rs777442412
NM_017841.2(SDHAF2):c.98G>T (p.Arg33Leu) rs777442412
NM_017841.4(SDHAF2):c.100T>C (p.Phe34Leu)
NM_017841.4(SDHAF2):c.101T>C (p.Phe34Ser)
NM_017841.4(SDHAF2):c.103T>C (p.Tyr35His)
NM_017841.4(SDHAF2):c.121A>G (p.Thr41Ala)
NM_017841.4(SDHAF2):c.146A>G (p.Glu49Gly)
NM_017841.4(SDHAF2):c.14C>T (p.Thr5Ile)
NM_017841.4(SDHAF2):c.165G>A (p.Trp55Ter) rs774508076
NM_017841.4(SDHAF2):c.169G>A (p.Glu57Lys)
NM_017841.4(SDHAF2):c.17T>C (p.Val6Ala)
NM_017841.4(SDHAF2):c.190G>A (p.Glu64Lys)
NM_017841.4(SDHAF2):c.199del (p.Arg67fs)
NM_017841.4(SDHAF2):c.206G>T (p.Arg69Leu)
NM_017841.4(SDHAF2):c.208C>G (p.Leu70Val)
NM_017841.4(SDHAF2):c.215A>G (p.Tyr72Cys)
NM_017841.4(SDHAF2):c.222C>G (p.Ser74Arg)
NM_017841.4(SDHAF2):c.235A>G (p.Met79Val) rs781702725
NM_017841.4(SDHAF2):c.246C>G (p.Asn82Lys) rs1590764924
NM_017841.4(SDHAF2):c.260+10T>C rs1590764949
NM_017841.4(SDHAF2):c.265T>C (p.Phe89Leu)
NM_017841.4(SDHAF2):c.269C>T (p.Ala90Val) rs373951663
NM_017841.4(SDHAF2):c.274G>A (p.Glu92Lys)
NM_017841.4(SDHAF2):c.279T>G (p.His93Gln)
NM_017841.4(SDHAF2):c.309C>T (p.Asn103=) rs184314049
NM_017841.4(SDHAF2):c.321C>T (p.Arg107=) rs754291669
NM_017841.4(SDHAF2):c.334C>A (p.Pro112Thr)
NM_017841.4(SDHAF2):c.337A>G (p.Ser113Gly)
NM_017841.4(SDHAF2):c.350A>G (p.Asp117Gly) rs151040226
NM_017841.4(SDHAF2):c.352A>G (p.Ile118Val) rs747994812
NM_017841.4(SDHAF2):c.37-1G>C rs761956866
NM_017841.4(SDHAF2):c.370+2T>A
NM_017841.4(SDHAF2):c.370+7G>C rs1590765180
NM_017841.4(SDHAF2):c.37A>G (p.Met13Val)
NM_017841.4(SDHAF2):c.387A>G (p.Pro129=) rs770383127
NM_017841.4(SDHAF2):c.3G>A (p.Met1Ile)
NM_017841.4(SDHAF2):c.406G>A (p.Val136Ile)
NM_017841.4(SDHAF2):c.410T>G (p.Met137Arg)
NM_017841.4(SDHAF2):c.436AACAAA[1] (p.146NK[1])
NM_017841.4(SDHAF2):c.43G>C (p.Ala15Pro)
NM_017841.4(SDHAF2):c.443del (p.Asn148fs) rs1002286076
NM_017841.4(SDHAF2):c.444_447del (p.Asn148fs)
NM_017841.4(SDHAF2):c.446A>C (p.Lys149Thr)
NM_017841.4(SDHAF2):c.446A>G (p.Lys149Arg)
NM_017841.4(SDHAF2):c.451C>T (p.Gln151Ter)
NM_017841.4(SDHAF2):c.461G>A (p.Arg154His) rs768954974
NM_017841.4(SDHAF2):c.46C>G (p.Leu16Val)
NM_017841.4(SDHAF2):c.473T>C (p.Leu158Pro)
NM_017841.4(SDHAF2):c.83T>G (p.Val28Gly)
NM_017841.4(SDHAF2):c.8T>C (p.Val3Ala)
NM_017841.4(SDHAF2):c.96A>T (p.Arg32Ser)
NM_017849.3(TMEM127):c.-131-?_*3600del
NM_017849.3(TMEM127):c.100G>A (p.Ala34Thr) rs1553437740
NM_017849.3(TMEM127):c.101C>A (p.Ala34Asp) rs1451389209
NM_017849.3(TMEM127):c.102C>T (p.Ala34=) rs781643869
NM_017849.3(TMEM127):c.10C>T (p.Pro4Ser) rs1024081498
NM_017849.3(TMEM127):c.111C>T (p.Gly37=) rs1573977865
NM_017849.3(TMEM127):c.121A>G (p.Ile41Val) rs760633411
NM_017849.3(TMEM127):c.123C>G (p.Ile41Met) rs1573977845
NM_017849.3(TMEM127):c.124_125del (p.Thr42fs) rs1553437737
NM_017849.3(TMEM127):c.126G>A (p.Thr42=) rs1573977835
NM_017849.3(TMEM127):c.12C>T (p.Pro4=) rs1406470818
NM_017849.3(TMEM127):c.133T>A (p.Cys45Ser) rs995979769
NM_017849.3(TMEM127):c.136A>G (p.Thr46Ala) rs144659242
NM_017849.3(TMEM127):c.143T>C (p.Leu48Pro) rs1219876266
NM_017849.3(TMEM127):c.145G>A (p.Ala49Thr) rs577020327
NM_017849.3(TMEM127):c.154G>A (p.Ala52Thr) rs767257269
NM_017849.3(TMEM127):c.154G>T (p.Ala52Ser) rs767257269
NM_017849.3(TMEM127):c.158G>A (p.Trp53Ter) rs121908818
NM_017849.3(TMEM127):c.158G>C (p.Trp53Ser) rs121908818
NM_017849.3(TMEM127):c.166A>G (p.Ile56Val) rs751779219
NM_017849.3(TMEM127):c.172G>A (p.Gly58Arg) rs764136807
NM_017849.3(TMEM127):c.182G>C (p.Cys61Ser) rs886056448
NM_017849.3(TMEM127):c.187C>T (p.Arg63Cys) rs1558756534
NM_017849.3(TMEM127):c.188G>A (p.Arg63His) rs1187661049
NM_017849.3(TMEM127):c.188G>T (p.Arg63Leu) rs1187661049
NM_017849.3(TMEM127):c.197T>C (p.Leu66Pro) rs1249787183
NM_017849.3(TMEM127):c.19G>A (p.Ala7Thr) rs1390402715
NM_017849.3(TMEM127):c.208G>A (p.Asp70Asn) rs121908819
NM_017849.3(TMEM127):c.210C>T (p.Asp70=) rs1553437721
NM_017849.3(TMEM127):c.211G>A (p.Val71Met) rs142947571
NM_017849.3(TMEM127):c.212T>A (p.Val71Glu) rs1553437719
NM_017849.3(TMEM127):c.213G>A (p.Val71=) rs777169152
NM_017849.3(TMEM127):c.221A>C (p.Tyr74Ser) rs747804736
NM_017849.3(TMEM127):c.221A>G (p.Tyr74Cys) rs747804736
NM_017849.3(TMEM127):c.228C>A (p.His76Gln) rs1060500599
NM_017849.3(TMEM127):c.245-10C>G rs1573970399
NM_017849.3(TMEM127):c.245-1G>C rs121908821
NM_017849.3(TMEM127):c.245-3C>T rs181429509
NM_017849.3(TMEM127):c.245-6C>G rs1573970396
NM_017849.3(TMEM127):c.248del (p.Phe83fs) rs587781773
NM_017849.3(TMEM127):c.253A>G (p.Met85Val) rs771261665
NM_017849.3(TMEM127):c.265A>G (p.Thr89Ala) rs1573970344
NM_017849.3(TMEM127):c.265_268del (p.Thr89fs) rs121908822
NM_017849.3(TMEM127):c.267A>G (p.Thr89=) rs773384410
NM_017849.3(TMEM127):c.270G>T (p.Val90=) rs748896126
NM_017849.3(TMEM127):c.280C>T (p.Arg94Trp) rs121908824
NM_017849.3(TMEM127):c.281G>A (p.Arg94Gln) rs746831347
NM_017849.3(TMEM127):c.283del (p.Val95fs) rs1553437028
NM_017849.3(TMEM127):c.288C>T (p.Ile96=) rs758726687
NM_017849.3(TMEM127):c.289G>A (p.Ala97Thr) rs752938517
NM_017849.3(TMEM127):c.292G>A (p.Ala98Thr) rs369144563
NM_017849.3(TMEM127):c.298T>A (p.Cys100Ser) rs1573970265
NM_017849.3(TMEM127):c.313C>T (p.Leu105=) rs754465684
NM_017849.3(TMEM127):c.314T>C (p.Leu105Pro) rs766918841
NM_017849.3(TMEM127):c.314T>G (p.Leu105Arg) rs766918841
NM_017849.3(TMEM127):c.31G>T (p.Gly11Cys) rs992633976
NM_017849.3(TMEM127):c.324C>T (p.Leu108=) rs148381232
NM_017849.3(TMEM127):c.330T>C (p.Ala110=) rs1157106593
NM_017849.3(TMEM127):c.331T>C (p.Phe111Leu) rs1558752478
NM_017849.3(TMEM127):c.337del (p.Leu113fs) rs1558752468
NM_017849.3(TMEM127):c.343G>A (p.Val115Ile) rs930453941
NM_017849.3(TMEM127):c.353C>T (p.Pro118Leu) rs769359648
NM_017849.3(TMEM127):c.364G>A (p.Ala122Thr) rs1553436990
NM_017849.3(TMEM127):c.377C>T (p.Thr126Ile) rs775944671
NM_017849.3(TMEM127):c.379C>T (p.Arg127Cys) rs746883021
NM_017849.3(TMEM127):c.382C>T (p.Arg128Cys) rs759261535
NM_017849.3(TMEM127):c.384C>T (p.Arg128=) rs755188175
NM_017849.3(TMEM127):c.391T>A (p.Phe131Ile) rs1573970081
NM_017849.3(TMEM127):c.393C>T (p.Phe131=) rs756680897
NM_017849.3(TMEM127):c.394G>A (p.Ala132Thr) rs750870974
NM_017849.3(TMEM127):c.397del (p.His133fs) rs1558752379
NM_017849.3(TMEM127):c.3G>A (p.Met1Ile) rs121908814
NM_017849.3(TMEM127):c.402C>A (p.Ile134=) rs1553436974
NM_017849.3(TMEM127):c.407C>T (p.Thr136Met) rs759138897
NM_017849.3(TMEM127):c.408G>A (p.Thr136=) rs143522428
NM_017849.3(TMEM127):c.408G>T (p.Thr136=) rs143522428
NM_017849.3(TMEM127):c.409+7C>T rs189327749
NM_017849.3(TMEM127):c.410-2A>G rs121908826
NM_017849.3(TMEM127):c.411T>A (p.Val137=) rs760099422
NM_017849.3(TMEM127):c.413T>C (p.Leu138Pro) rs772714957
NM_017849.3(TMEM127):c.419G>T (p.Cys140Phe) rs121908828
NM_017849.3(TMEM127):c.426C>T (p.Thr142=) rs552787569
NM_017849.3(TMEM127):c.427G>A (p.Val143Ile) rs772153618
NM_017849.3(TMEM127):c.430A>T (p.Ile144Phe) rs896909534
NM_017849.3(TMEM127):c.462C>G (p.Ile154Met) rs987656498
NM_017849.3(TMEM127):c.464T>A (p.Leu155Ter) rs886039439
NM_017849.3(TMEM127):c.469C>T (p.Gln157Ter) rs780133289
NM_017849.3(TMEM127):c.472C>G (p.Gln158Glu) rs769988721
NM_017849.3(TMEM127):c.473A>G (p.Gln158Arg) rs1231103743
NM_017849.3(TMEM127):c.478C>T (p.Gln160Ter) rs1573969322
NM_017849.3(TMEM127):c.490T>C (p.Tyr164His) rs1553436892
NM_017849.3(TMEM127):c.494A>G (p.His165Arg) rs752030320
NM_017849.3(TMEM127):c.496G>A (p.Gly166Arg) rs372120755
NM_017849.3(TMEM127):c.50G>T (p.Ser17Ile) rs1223613323
NM_017849.3(TMEM127):c.519C>A (p.Phe173Leu) rs758676810
NM_017849.3(TMEM127):c.519C>T (p.Phe173=) rs758676810
NM_017849.3(TMEM127):c.520G>A (p.Ala174Thr) rs753594901
NM_017849.3(TMEM127):c.522C>T (p.Ala174=) rs367951215
NM_017849.3(TMEM127):c.526A>G (p.Ser176Gly) rs1553436876
NM_017849.3(TMEM127):c.52C>T (p.Pro18Ser) rs1452142786
NM_017849.3(TMEM127):c.532dup (p.Tyr178fs) rs1553436874
NM_017849.3(TMEM127):c.534C>T (p.Tyr178=) rs550833832
NM_017849.3(TMEM127):c.53C>T (p.Pro18Leu) rs377740271
NM_017849.3(TMEM127):c.550G>C (p.Gly184Arg) rs1060500597
NM_017849.3(TMEM127):c.553G>A (p.Gly185Arg) rs1553436865
NM_017849.3(TMEM127):c.556G>C (p.Ala186Pro) rs764012422
NM_017849.3(TMEM127):c.562A>G (p.Ile188Val) rs762657413
NM_017849.3(TMEM127):c.565C>G (p.Leu189Val) rs146965678
NM_017849.3(TMEM127):c.565C>T (p.Leu189=) rs146965678
NM_017849.3(TMEM127):c.56G>T (p.Gly19Val) rs1331019402
NM_017849.3(TMEM127):c.570del (p.Thr191fs) rs1215337884
NM_017849.3(TMEM127):c.572C>T (p.Thr191Met) rs200327514
NM_017849.3(TMEM127):c.573G>A (p.Thr191=) rs147816248
NM_017849.3(TMEM127):c.584T>G (p.Leu195Arg) rs1573969123
NM_017849.3(TMEM127):c.589C>T (p.Arg197Cys) rs140860906
NM_017849.3(TMEM127):c.590G>A (p.Arg197His) rs1231066976
NM_017849.3(TMEM127):c.598C>A (p.Pro200Thr) rs200351681
NM_017849.3(TMEM127):c.598C>T (p.Pro200Ser) rs200351681
NM_017849.3(TMEM127):c.604G>A (p.Glu202Lys) rs1429621198
NM_017849.3(TMEM127):c.619G>A (p.Ala207Thr) rs756818796
NM_017849.3(TMEM127):c.620C>T (p.Ala207Val) rs751044006
NM_017849.3(TMEM127):c.62G>A (p.Ser21Asn) rs1348645128
NM_017849.3(TMEM127):c.644A>G (p.Glu215Gly) rs1573968995
NM_017849.3(TMEM127):c.64G>A (p.Ala22Thr) rs1273425757
NM_017849.3(TMEM127):c.651C>T (p.Asn217=) rs759801591
NM_017849.3(TMEM127):c.652G>A (p.Glu218Lys) rs746291260
NM_017849.3(TMEM127):c.662C>T (p.Pro221Leu) rs144326855
NM_017849.3(TMEM127):c.663G>A (p.Pro221=) rs377760956
NM_017849.3(TMEM127):c.665C>T (p.Ala222Val) rs373951977
NM_017849.3(TMEM127):c.666G>A (p.Ala222=) rs772481029
NM_017849.3(TMEM127):c.667G>A (p.Glu223Lys) rs779910556
NM_017849.3(TMEM127):c.669A>T (p.Glu223Asp) rs1431574710
NM_017849.3(TMEM127):c.671A>G (p.Tyr224Cys) rs1060500598
NM_017849.3(TMEM127):c.672T>C (p.Tyr224=) rs201935270
NM_017849.3(TMEM127):c.67C>A (p.Leu23Met) rs749807415
NM_017849.3(TMEM127):c.712C>A (p.Pro238Thr) rs1184921725
NM_017849.3(TMEM127):c.71C>G (p.Pro24Arg) rs1231130879
NM_017849.3(TMEM127):c.7del (p.Ala3fs) rs1558756727
NM_017849.3(TMEM127):c.80C>T (p.Pro27Leu) rs983504110
NM_017849.3(TMEM127):c.81G>A (p.Pro27=) rs1553437743
NM_017849.3(TMEM127):c.88A>G (p.Ser30Gly) rs763476625
NM_017849.3(TMEM127):c.8C>T (p.Ala3Val) rs1553437754
NM_017849.3(TMEM127):c.94G>T (p.Ala32Ser) rs770347064
NM_017849.3(TMEM127):c.95C>T (p.Ala32Val) rs1459156138
NM_017849.4(TMEM127):c.112G>T (p.Ala38Ser)
NM_017849.4(TMEM127):c.116T>C (p.Leu39Pro)
NM_017849.4(TMEM127):c.119C>T (p.Ser40Phe)
NM_017849.4(TMEM127):c.128C>A (p.Ala43Glu)
NM_017849.4(TMEM127):c.136A>T (p.Thr46Ser) rs144659242
NM_017849.4(TMEM127):c.140C>A (p.Ala47Asp)
NM_017849.4(TMEM127):c.152C>T (p.Pro51Leu) rs1573977765
NM_017849.4(TMEM127):c.157T>G (p.Trp53Gly)
NM_017849.4(TMEM127):c.164A>C (p.His55Pro)
NM_017849.4(TMEM127):c.167T>A (p.Ile56Asn)
NM_017849.4(TMEM127):c.196C>T (p.Leu66=) rs1211097710
NM_017849.4(TMEM127):c.1A>T (p.Met1Leu)
NM_017849.4(TMEM127):c.200G>T (p.Gly67Val) rs1573977675
NM_017849.4(TMEM127):c.205T>C (p.Ser69Pro)
NM_017849.4(TMEM127):c.214T>C (p.Leu72=) rs1573977624
NM_017849.4(TMEM127):c.218G>C (p.Gly73Ala)
NM_017849.4(TMEM127):c.238C>G (p.Leu80Val)
NM_017849.4(TMEM127):c.24_32del (p.Leu9_Gly11del)
NM_017849.4(TMEM127):c.259C>G (p.Pro87Ala)
NM_017849.4(TMEM127):c.266C>T (p.Thr89Ile) rs876658430
NM_017849.4(TMEM127):c.281G>T (p.Arg94Leu)
NM_017849.4(TMEM127):c.28C>T (p.Pro10Ser)
NM_017849.4(TMEM127):c.292G>C (p.Ala98Pro)
NM_017849.4(TMEM127):c.2T>G (p.Met1Arg)
NM_017849.4(TMEM127):c.325T>C (p.Ser109Pro) rs761032675
NM_017849.4(TMEM127):c.326C>T (p.Ser109Phe)
NM_017849.4(TMEM127):c.327C>T (p.Ser109=) rs773650718
NM_017849.4(TMEM127):c.328G>A (p.Ala110Thr)
NM_017849.4(TMEM127):c.33C>T (p.Gly11=) rs1268280072
NM_017849.4(TMEM127):c.354G>A (p.Pro118=) rs1392614291
NM_017849.4(TMEM127):c.359A>G (p.His120Arg)
NM_017849.4(TMEM127):c.370A>T (p.Lys124Ter)
NM_017849.4(TMEM127):c.380G>A (p.Arg127His) rs777665433
NM_017849.4(TMEM127):c.383G>A (p.Arg128His)
NM_017849.4(TMEM127):c.383G>T (p.Arg128Leu)
NM_017849.4(TMEM127):c.383dup (p.Tyr129fs)
NM_017849.4(TMEM127):c.39C>T (p.Arg13=) rs1060503975
NM_017849.4(TMEM127):c.401T>A (p.Ile134Asn) rs1573970063
NM_017849.4(TMEM127):c.409+9T>C rs1573970006
NM_017849.4(TMEM127):c.410-6T>G rs765971817
NM_017849.4(TMEM127):c.410-7C>T rs375440877
NM_017849.4(TMEM127):c.412C>G (p.Leu138Val)
NM_017849.4(TMEM127):c.424A>C (p.Thr142Pro)
NM_017849.4(TMEM127):c.444T>C (p.Tyr148=) rs768545721
NM_017849.4(TMEM127):c.451T>C (p.Ser151Pro)
NM_017849.4(TMEM127):c.468C>A (p.Ala156=) rs749579854
NM_017849.4(TMEM127):c.482A>G (p.His161Arg)
NM_017849.4(TMEM127):c.485A>G (p.Lys162Arg)
NM_017849.4(TMEM127):c.49A>G (p.Ser17Gly)
NM_017849.4(TMEM127):c.500C>T (p.Ser167Phe)
NM_017849.4(TMEM127):c.507C>A (p.Val169=) rs1573969264
NM_017849.4(TMEM127):c.512delinsGCC (p.Val171fs)
NM_017849.4(TMEM127):c.518T>G (p.Phe173Cys)
NM_017849.4(TMEM127):c.523G>A (p.Val175Ile) rs149034651
NM_017849.4(TMEM127):c.530del (p.Phe177fs)
NM_017849.4(TMEM127):c.542_554del (p.Ala181fs)
NM_017849.4(TMEM127):c.550G>A (p.Gly184Ser)
NM_017849.4(TMEM127):c.560C>T (p.Ser187Leu)
NM_017849.4(TMEM127):c.568G>A (p.Ala190Thr)
NM_017849.4(TMEM127):c.584T>C (p.Leu195Pro)
NM_017849.4(TMEM127):c.587T>G (p.Leu196Arg)
NM_017849.4(TMEM127):c.601A>G (p.Thr201Ala)
NM_017849.4(TMEM127):c.60C>T (p.Gly20=)
NM_017849.4(TMEM127):c.613del (p.Glu205fs)
NM_017849.4(TMEM127):c.616C>T (p.Gln206Ter)
NM_017849.4(TMEM127):c.626A>T (p.Glu209Val) rs1285100095
NM_017849.4(TMEM127):c.636A>G (p.Ser212=) rs1573969010
NM_017849.4(TMEM127):c.63C>G (p.Ser21Arg)
NM_017849.4(TMEM127):c.640A>T (p.Met214Leu)
NM_017849.4(TMEM127):c.656C>G (p.Pro219Arg)
NM_017849.4(TMEM127):c.674A>G (p.Glu225Gly)
NM_017849.4(TMEM127):c.679A>T (p.Ile227Phe)
NM_017849.4(TMEM127):c.67C>T (p.Leu23=) rs749807415
NM_017849.4(TMEM127):c.690C>G (p.Phe230Leu)
NM_017849.4(TMEM127):c.693G>C (p.Gln231His)
NM_017849.4(TMEM127):c.694C>T (p.Pro232Ser)
NM_017849.4(TMEM127):c.700C>A (p.Pro234Thr)

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