ClinVar Miner

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

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
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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_003000.3(SDHB):c.744C>G (p.Asn248Lys) rs1131691058 0.00001
NM_003002.4(SDHD):c.53-1G>T rs1291507545 0.00001
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_000011.9:g.(?_111959651)_(111960112_?)del
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.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_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

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