ClinVar Miner

List of variants reported as likely pathogenic for endocrine gland neoplasm by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 242
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HGVS dbSNP gnomAD frequency
NM_003000.3(SDHB):c.269G>A (p.Arg90Gln) rs570278423 0.00004
NM_003000.3(SDHB):c.650G>A (p.Arg217His) rs747518441 0.00003
NM_004168.4(SDHA):c.1741G>A (p.Gly581Arg) rs771111180 0.00003
NM_001370259.2(MEN1):c.466G>A (p.Gly156Ser) rs1085307471 0.00001
NM_003000.3(SDHB):c.744C>G (p.Asn248Lys) rs1131691058 0.00001
NM_003001.5(SDHC):c.215G>A (p.Arg72His) rs778582853 0.00001
NM_003002.4(SDHD):c.53-1G>T rs1291507545 0.00001
NM_004168.4(SDHA):c.150+1G>A rs1057523165 0.00001
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp) rs9809219 0.00001
NM_004168.4(SDHA):c.1909-2A>G rs747939816 0.00001
NM_004168.4(SDHA):c.562C>T (p.Arg188Trp) rs553257776 0.00001
NM_004168.4(SDHA):c.778G>A (p.Gly260Arg) rs940845256 0.00001
NM_004168.4(SDHA):c.818C>T (p.Thr273Ile) rs587781720 0.00001
NM_004168.4(SDHA):c.923C>T (p.Thr308Met) rs1457666982 0.00001
NC_000001.10:g.(?_161310384)_(161310445_?)dup
NC_000001.10:g.(?_161326457)_(161326640_?)dup
NC_000001.10:g.(?_17349093)_(17350579_?)del
NC_000001.10:g.(?_17349097)_(17359646_?)dup
NC_000001.10:g.(?_17354234)_(17359650_?)dup
NC_000001.10:g.(?_17356590)_(17359633_?)del
NC_000001.10:g.(?_17359545)_(17359650_?)dup
NC_000001.10:g.(?_17371236)_(17371403_?)dup
NC_000001.10:g.(?_17371256)_(17371383_?)dup
NC_000001.10:g.(?_193099294)_(193111206_?)del
NC_000001.10:g.(?_193104511)_(193121584_?)dup
NC_000001.10:g.(?_193172919)_(193205492_?)dup
NC_000001.10:g.(?_193172925)_(193205486_?)dup
NC_000001.11:g.(?_161340584)_(161340665_?)dup
NC_000001.11:g.(?_193130168)_(193135595_?)del
NC_000010.10:g.(?_43595901)_(43598083_?)del
NC_000010.11:g.(?_43100449)_(43102639_?)del
NC_000011.9:g.(?_111959651)_(111960112_?)del
NM_001370259.2(MEN1):c.1009G>C (p.Ala337Pro) rs2071312
NM_001370259.2(MEN1):c.1024G>C (p.Ala342Pro) rs776561706
NM_001370259.2(MEN1):c.1043T>A (p.Ile348Asn)
NM_001370259.2(MEN1):c.1049+5G>C
NM_001370259.2(MEN1):c.1049A>T (p.Asp350Val)
NM_001370259.2(MEN1):c.113C>A (p.Ser38Tyr)
NM_001370259.2(MEN1):c.1185+1G>A rs1941661315
NM_001370259.2(MEN1):c.1231G>C (p.Ala411Pro)
NM_001370259.2(MEN1):c.1232C>T (p.Ala411Val)
NM_001370259.2(MEN1):c.1256G>T (p.Gly419Val) rs1941615895
NM_001370259.2(MEN1):c.1328C>A (p.Ser443Tyr) rs1060499981
NM_001370259.2(MEN1):c.1340T>C (p.Phe447Ser) rs1941604532
NM_001370259.2(MEN1):c.1350G>C (p.Gln450His) rs1592636161
NM_001370259.2(MEN1):c.1354C>G (p.Arg452Gly)
NM_001370259.2(MEN1):c.1355G>C (p.Arg452Pro) rs775922507
NM_001370259.2(MEN1):c.1364T>A (p.Val455Glu) rs878855189
NM_001370259.2(MEN1):c.137A>C (p.His46Pro) rs2136192730
NM_001370259.2(MEN1):c.137A>G (p.His46Arg)
NM_001370259.2(MEN1):c.1471G>T (p.Glu491Ter)
NM_001370259.2(MEN1):c.154C>G (p.Arg52Gly) rs1555166664
NM_001370259.2(MEN1):c.1663A>G (p.Ser555Gly)
NM_001370259.2(MEN1):c.1667AGA[1] (p.Lys557del) rs794728661
NM_001370259.2(MEN1):c.1673T>C (p.Met558Thr)
NM_001370259.2(MEN1):c.1732C>T (p.Gln578Ter)
NM_001370259.2(MEN1):c.1739del (p.Thr580fs) rs864622617
NM_001370259.2(MEN1):c.1756C>T (p.Gln586Ter)
NM_001370259.2(MEN1):c.356A>T (p.Lys119Met)
NM_001370259.2(MEN1):c.35C>G (p.Pro12Arg)
NM_001370259.2(MEN1):c.416A>C (p.His139Pro)
NM_001370259.2(MEN1):c.416A>G (p.His139Arg) rs1114167515
NM_001370259.2(MEN1):c.417C>A (p.His139Gln) rs386134254
NM_001370259.2(MEN1):c.422A>G (p.Gln141Arg) rs758846538
NM_001370259.2(MEN1):c.428T>A (p.Leu143His)
NM_001370259.2(MEN1):c.430T>G (p.Phe144Val) rs1114167543
NM_001370259.2(MEN1):c.445+1G>A
NM_001370259.2(MEN1):c.445+1G>T
NM_001370259.2(MEN1):c.458A>C (p.Asp153Ala) rs1565648789
NM_001370259.2(MEN1):c.466G>T (p.Gly156Cys) rs1085307471
NM_001370259.2(MEN1):c.491C>T (p.Ala164Val) rs1565648547
NM_001370259.2(MEN1):c.494G>A (p.Cys165Tyr) rs1057521111
NM_001370259.2(MEN1):c.498G>C (p.Gln166His)
NM_001370259.2(MEN1):c.64C>A (p.Leu22Met)
NM_001370259.2(MEN1):c.654+3A>G rs1064793168
NM_001370259.2(MEN1):c.655-15_658del rs1592649598
NM_001370259.2(MEN1):c.65T>G (p.Leu22Arg) rs104894256
NM_001370259.2(MEN1):c.668T>G (p.Leu223Arg)
NM_001370259.2(MEN1):c.721T>C (p.Cys241Arg) rs1592649108
NM_001370259.2(MEN1):c.725C>T (p.Ala242Val) rs2136141530
NM_001370259.2(MEN1):c.763G>A (p.Glu255Lys) rs104894268
NM_001370259.2(MEN1):c.763G>C (p.Glu255Gln) rs104894268
NM_001370259.2(MEN1):c.766C>T (p.Leu256Phe) rs878855198
NM_001370259.2(MEN1):c.767T>C (p.Leu256Pro)
NM_001370259.2(MEN1):c.783+2del
NM_001370259.2(MEN1):c.784-1G>A rs1555165377
NM_001370259.2(MEN1):c.784-1G>C rs1555165377
NM_001370259.2(MEN1):c.784-2A>T
NM_001370259.2(MEN1):c.818T>G (p.Leu273Arg)
NM_001370259.2(MEN1):c.825-1_825del rs2136130282
NM_001370259.2(MEN1):c.830C>A (p.Pro277His) rs1060499973
NM_001370259.2(MEN1):c.833T>G (p.Met278Arg) rs1592646765
NM_001370259.2(MEN1):c.850G>A (p.Ala284Thr)
NM_001370259.2(MEN1):c.958C>A (p.Pro320Thr)
NM_001370259.2(MEN1):c.959C>T (p.Pro320Leu) rs1114167469
NM_001370259.2(MEN1):c.95C>G (p.Pro32Arg)
NM_001370259.2(MEN1):c.97G>C (p.Asp33His)
NM_001370259.2(MEN1):c.97G>T (p.Asp33Tyr)
NM_001370259.2(MEN1):c.983A>C (p.His328Pro)
NM_001370259.2(MEN1):c.99C>G (p.Asp33Glu)
NM_003000.2(SDHB):c.201-?_765+?dup
NM_003000.3(SDHB):c.120G>C (p.Lys40Asn) rs1570958090
NM_003000.3(SDHB):c.127G>C (p.Ala43Pro)
NM_003000.3(SDHB):c.200+5G>T rs1553178726
NM_003000.3(SDHB):c.203G>A (p.Cys68Tyr) rs587782904
NM_003000.3(SDHB):c.206G>T (p.Gly69Val) rs2101529108
NM_003000.3(SDHB):c.221A>G (p.Asp74Gly)
NM_003000.3(SDHB):c.258_260dup (p.Thr86_Leu87insPhe) rs2101528919
NM_003000.3(SDHB):c.269G>T (p.Arg90Leu) rs570278423
NM_003000.3(SDHB):c.278G>A (p.Cys93Tyr)
NM_003000.3(SDHB):c.286G>T (p.Gly96Cys) rs587782243
NM_003000.3(SDHB):c.287-10_295del
NM_003000.3(SDHB):c.289A>T (p.Ile97Phe) rs1553177769
NM_003000.3(SDHB):c.412G>T (p.Asp138Tyr) rs786203529
NM_003000.3(SDHB):c.540+1G>A rs1553177667
NM_003000.3(SDHB):c.540_540+13del rs1553177666
NM_003000.3(SDHB):c.566G>A (p.Cys189Tyr)
NM_003000.3(SDHB):c.567T>G (p.Cys189Trp) rs2101516550
NM_003000.3(SDHB):c.586T>C (p.Cys196Arg) rs2101516484
NM_003000.3(SDHB):c.589C>T (p.Pro197Ser) rs2077978300
NM_003000.3(SDHB):c.598T>C (p.Trp200Arg) rs1557739966
NM_003000.3(SDHB):c.622G>A (p.Gly208Arg)
NM_003000.3(SDHB):c.641A>G (p.Gln214Arg) rs781590955
NM_003000.3(SDHB):c.642_642+6del rs876660368
NM_003000.3(SDHB):c.649C>A (p.Arg217Ser)
NM_003000.3(SDHB):c.650G>T (p.Arg217Leu) rs747518441
NM_003000.3(SDHB):c.729C>G (p.Cys243Trp) rs2101513669
NM_003000.3(SDHB):c.73-1G>A rs1131691055
NM_003000.3(SDHB):c.73-1G>T rs1131691055
NM_003000.3(SDHB):c.73-2A>T rs1474282888
NM_003000.3(SDHB):c.756_765+4del rs1553177267
NM_003000.3(SDHB):c.780dup (p.Lys261fs) rs1557738304
NM_003000.3(SDHB):c.784_787dup (p.Ile263fs) rs1553176976
NM_003000.3(SDHB):c.785_786insG (p.Ile263fs) rs1553176979
NM_003001.5(SDHC):c.148C>A (p.Arg50Ser)
NM_003001.5(SDHC):c.160C>A (p.Pro54Thr) rs1553262444
NM_003001.5(SDHC):c.171_179+15del rs1671156558
NM_003001.5(SDHC):c.179+1G>C rs1057517818
NM_003001.5(SDHC):c.179+1G>T rs1057517818
NM_003001.5(SDHC):c.179+2T>A
NM_003001.5(SDHC):c.180-2A>G rs1363265634
NM_003001.5(SDHC):c.20+1G>A
NM_003001.5(SDHC):c.20+1G>T rs1249046874
NM_003001.5(SDHC):c.20+2T>A
NM_003001.5(SDHC):c.20G>A (p.Arg7Lys) rs2102271857
NM_003001.5(SDHC):c.224G>A (p.Gly75Asp) rs786205147
NM_003001.5(SDHC):c.242-1G>A
NM_003001.5(SDHC):c.379C>A (p.His127Asn) rs1485675090
NM_003001.5(SDHC):c.405+1del rs1558182956
NM_003001.5(SDHC):c.77+1G>A rs1558164647
NM_003002.4(SDHD):c.148C>G (p.His50Asp) rs779249550
NM_003002.4(SDHD):c.169+5G>C rs1865657237
NM_003002.4(SDHD):c.275A>T (p.Asp92Val) rs786205436
NM_003002.4(SDHD):c.304C>A (p.His102Asn) rs786202403
NM_003002.4(SDHD):c.304C>T (p.His102Tyr) rs786202403
NM_003002.4(SDHD):c.305A>C (p.His102Pro) rs104894302
NM_003002.4(SDHD):c.315-2A>G rs2135277333
NM_003002.4(SDHD):c.340T>C (p.Tyr114His) rs876659276
NM_003002.4(SDHD):c.394del (p.Ser132fs) rs1060503773
NM_003002.4(SDHD):c.413G>A (p.Gly138Glu) rs1401695686
NM_003002.4(SDHD):c.413G>T (p.Gly138Val) rs1401695686
NM_003002.4(SDHD):c.416T>G (p.Leu139Arg) rs80338847
NM_003002.4(SDHD):c.44_52+24del rs1865621296
NM_003002.4(SDHD):c.53-1_53delinsTT rs1566691921
NM_003002.4(SDHD):c.53-2A>C
NM_004168.4(SDHA):c.1064+1G>T rs1579402807
NM_004168.4(SDHA):c.1064+2T>A rs1553999072
NM_004168.4(SDHA):c.1064+2T>C
NM_004168.4(SDHA):c.1064+2T>G rs1553999072
NM_004168.4(SDHA):c.1260+1G>A rs1735710012
NM_004168.4(SDHA):c.1260+2T>A rs1735710103
NM_004168.4(SDHA):c.1261-1G>A rs1735779936
NM_004168.4(SDHA):c.1261-2A>G rs1579409293
NM_004168.4(SDHA):c.1304T>G (p.Leu435Arg) rs1579409500
NM_004168.4(SDHA):c.1334C>T (p.Ser445Leu) rs1296066077
NM_004168.4(SDHA):c.1351C>T (p.Arg451Cys) rs1553999752
NM_004168.4(SDHA):c.1432+1G>A
NM_004168.4(SDHA):c.1432+1G>C rs878854628
NM_004168.4(SDHA):c.1432+1G>T rs878854628
NM_004168.4(SDHA):c.1432+1_1432+2delinsAG rs1579410180
NM_004168.4(SDHA):c.1432+2T>C
NM_004168.4(SDHA):c.1433-1G>A
NM_004168.4(SDHA):c.1433-2A>G
NM_004168.4(SDHA):c.150+1G>C rs1057523165
NM_004168.4(SDHA):c.150_150+1delinsTA rs2126539987
NM_004168.4(SDHA):c.151-1G>C rs1458851277
NM_004168.4(SDHA):c.151-2A>G
NM_004168.4(SDHA):c.1551+1G>A rs759806010
NM_004168.4(SDHA):c.1552-1G>C
NM_004168.4(SDHA):c.1552-1G>T
NM_004168.4(SDHA):c.1571C>T (p.Ala524Val) rs137852767
NM_004168.4(SDHA):c.1664-1G>A
NM_004168.4(SDHA):c.1664-1G>C
NM_004168.4(SDHA):c.1664-2A>G rs2126633124
NM_004168.4(SDHA):c.1765C>G (p.Arg589Gly) rs387906780
NM_004168.4(SDHA):c.1766G>A (p.Arg589Gln) rs763766162
NM_004168.4(SDHA):c.1769del (p.Gly590fs) rs1554001958
NM_004168.4(SDHA):c.1773_1774dup (p.His592fs) rs1561010948
NM_004168.4(SDHA):c.1794+1G>A rs876659595
NM_004168.4(SDHA):c.1795-1G>T rs778516878
NM_004168.4(SDHA):c.1909-1G>A rs1159597886
NM_004168.4(SDHA):c.284C>G (p.Pro95Arg) rs1553997377
NM_004168.4(SDHA):c.312+1G>A rs2126543441
NM_004168.4(SDHA):c.456+1G>A rs1579384604
NM_004168.4(SDHA):c.456+1G>T rs1579384604
NM_004168.4(SDHA):c.621+1G>A rs1735002961
NM_004168.4(SDHA):c.621+1G>T
NM_004168.4(SDHA):c.622-1G>A rs1285132774
NM_004168.4(SDHA):c.622-2A>T
NM_004168.4(SDHA):c.63+2del rs1579369969
NM_004168.4(SDHA):c.64-2A>C
NM_004168.4(SDHA):c.769_770+77del
NM_004168.4(SDHA):c.770+2T>A
NM_004168.4(SDHA):c.771-1G>C rs1735353141
NM_004168.4(SDHA):c.895+1del rs2126568833
NM_004168.4(SDHA):c.895+2T>C
NM_004168.4(SDHA):c.896-2A>G
NM_004168.4(SDHA):c.896-2del
NM_020975.6(RET):c.1522+2T>C rs2132777891
NM_020975.6(RET):c.1622G>A (p.Cys541Tyr)
NM_020975.6(RET):c.1879+1G>A rs1588873476
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_020975.6(RET):c.1998delinsTTCT (p.Lys666delinsAsnSer) rs377767440
NM_020975.6(RET):c.2136+2T>G
NM_020975.6(RET):c.2752A>G (p.Met918Val) rs377767442
NM_020975.6(RET):c.3040-2A>G rs2133032257
NM_020975.6(RET):c.74-2A>T rs2132656224
NM_020975.6(RET):c.95C>T (p.Ser32Leu) rs76764689
NM_020975.6(RET):c.989G>A (p.Arg330Gln) rs80236571
NM_024529.5(CDC73):c.1030+2T>C
NM_024529.5(CDC73):c.1031-1G>T
NM_024529.5(CDC73):c.1067-2_1069del rs2102038469
NM_024529.5(CDC73):c.1155-3A>G rs1060500014
NM_024529.5(CDC73):c.1316+1del rs2102058495
NM_024529.5(CDC73):c.132-2A>C
NM_024529.5(CDC73):c.191T>C (p.Leu64Pro) rs121434264
NM_024529.5(CDC73):c.237_237+1insA
NM_024529.5(CDC73):c.238-8G>A rs2103117753
NM_024529.5(CDC73):c.307+1G>A
NM_024529.5(CDC73):c.307+2T>G
NM_024529.5(CDC73):c.513-1G>A
NM_024529.5(CDC73):c.729+1G>T rs1060500012

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