ClinVar Miner

List of variants reported as likely benign for endocrine gland neoplasm by Counsyl

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_004168.4(SDHA):c.1664-24del rs534296796 0.00297
NM_004168.4(SDHA):c.146A>G (p.Asp49Gly) rs80207011 0.00261
NM_020975.6(RET):c.1336G>C (p.Gly446Arg) rs115423919 0.00238
NM_004168.4(SDHA):c.313-19G>T rs185555941 0.00235
NM_020975.6(RET):c.337+12G>A rs200468424 0.00198
NM_003000.3(SDHB):c.32G>A (p.Arg11His) rs111430410 0.00185
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_001370259.2(MEN1):c.-20G>A rs386134244 0.00158
NM_001370259.2(MEN1):c.30G>T (p.Leu10=) rs371192390 0.00111
NM_020975.6(RET):c.1197G>A (p.Pro399=) rs148371113 0.00108
NM_020975.6(RET):c.225G>A (p.Thr75=) rs151267865 0.00052
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala) rs201740483 0.00047
NM_003000.3(SDHB):c.287-26A>G rs201397253 0.00040
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214 0.00039
NM_003001.5(SDHC):c.20+22G>C rs182261879 0.00032
NM_003001.5(SDHC):c.405+23C>T rs373731336 0.00026
NM_004168.4(SDHA):c.895+13G>A rs201461936 0.00025
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943 0.00024
NM_020975.6(RET):c.337+34C>T rs368088467 0.00022
NM_020975.6(RET):c.73+9278G>A rs537638504 0.00019
NM_003000.3(SDHB):c.642+17T>C rs200597595 0.00016
NM_020975.6(RET):c.1017G>A (p.Ser339=) rs369810881 0.00014
NM_020975.6(RET):c.2988G>A (p.Pro996=) rs145798106 0.00014
NM_020975.6(RET):c.1893C>T (p.Asp631=) rs55846256 0.00013
NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu) rs750112288 0.00012
NM_001370259.2(MEN1):c.339C>T (p.Ser113=) rs559635859 0.00011
NM_020975.6(RET):c.1437C>T (p.Ala479=) rs576806356 0.00011
NM_020975.6(RET):c.1522+35C>T rs377130948 0.00011
NM_020975.6(RET):c.337+11C>T rs754967305 0.00011
NM_001370259.2(MEN1):c.492C>T (p.Ala164=) rs146759807 0.00010
NM_020975.6(RET):c.1879+17C>T rs369920430 0.00010
NM_020975.6(RET):c.3243T>C (p.Asp1081=) rs144192900 0.00010
NM_001370259.2(MEN1):c.655-4del rs748005956 0.00009
NM_020975.6(RET):c.1530C>T (p.Ala510=) rs553492964 0.00009
NM_020975.6(RET):c.2136+15G>A rs751183869 0.00009
NM_020975.6(RET):c.1879+13C>T rs375573788 0.00008
NM_020975.6(RET):c.1182C>T (p.Asn394=) rs376465385 0.00007
NM_003001.5(SDHC):c.179+10G>A rs532455044 0.00006
NM_020975.6(RET):c.1649-4G>A rs369769303 0.00006
NM_020975.6(RET):c.2409C>T (p.Ile803=) rs535051804 0.00006
NM_020975.6(RET):c.337+29G>A rs578158807 0.00005
NM_004168.4(SDHA):c.1432+7G>C rs760526397 0.00004
NM_004168.4(SDHA):c.456+9C>T rs200565489 0.00004
NM_004168.4(SDHA):c.513T>C (p.Arg171=) rs765157205 0.00004
NM_020975.6(RET):c.1118C>T (p.Ala373Val) rs546866208 0.00004
NM_020975.6(RET):c.693C>T (p.Arg231=) rs576806329 0.00004
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=) rs587780841 0.00003
NM_020975.6(RET):c.1760-12G>A rs377767392 0.00003
NM_020975.6(RET):c.1879+14G>A rs532810255 0.00003
NM_020975.6(RET):c.2285-4T>G rs376601566 0.00003
NM_020975.6(RET):c.2298G>A (p.Pro766=) rs140658743 0.00003
NM_001370259.2(MEN1):c.784-16C>T rs754257177 0.00002
NM_003000.3(SDHB):c.765+13G>A rs115561881 0.00002
NM_020975.6(RET):c.1095G>A (p.Ser365=) rs201992974 0.00002
NM_020975.6(RET):c.1188G>A (p.Ser396=) rs758510657 0.00002
NM_020975.6(RET):c.1264-4C>T rs587780806 0.00002
NM_020975.6(RET):c.2226G>A (p.Thr742=) rs762876946 0.00002
NM_020975.6(RET):c.2393-9C>T rs567543719 0.00002
NM_020975.6(RET):c.1648+24G>A rs1057517640 0.00001
NM_020975.6(RET):c.2070C>T (p.Ser690=) rs201550433 0.00001
NM_020975.6(RET):c.2715C>T (p.Tyr905=) rs755023496 0.00001
NM_020975.6(RET):c.2802-4G>T rs878855061 0.00001
NM_020975.6(RET):c.3057G>A (p.Ala1019=) rs369579749 0.00001
NM_001370259.2(MEN1):c.655-5dup rs772016629
NM_003000.3(SDHB):c.424-14_424-9dup rs1064794554
NM_004168.4(SDHA):c.1432+20G>C rs200127852
NM_017654.4(SAMD9):c.3651dup (p.Asp1218Ter) rs199887936
NM_020975.6(RET):c.2137-16del rs1409965349
NM_020975.6(RET):c.2284+54C>A rs566375223
NM_020975.6(RET):c.2523G>A (p.Pro841=) rs56195026
NM_020975.6(RET):c.3040-11C>G rs1057517646

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