ClinVar Miner

List of variants reported as pathogenic for Paragangliomas 4 by Myriad Genetics, Inc.

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Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_003000.3(SDHB):c.136C>T (p.Arg46Ter) rs74315370 0.00003
NM_003000.3(SDHB):c.79C>T (p.Arg27Ter) rs74315369 0.00003
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056 0.00001
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) rs74315366 0.00001
NM_003000.3(SDHB):c.343C>T (p.Arg115Ter) rs751000085 0.00001
NM_003000.3(SDHB):c.600G>T (p.Trp200Cys) rs397516836 0.00001
NM_003000.3(SDHB):c.141G>A (p.Trp47Ter) rs1060503762
NM_003000.3(SDHB):c.166_170del (p.Pro56fs) rs786202100
NM_003000.3(SDHB):c.18_21delinsACT (p.Ser8fs) rs2525083200
NM_003000.3(SDHB):c.19_41dup (p.Pro14_Ala15insSerProTer) rs1553179340
NM_003000.3(SDHB):c.1A>G (p.Met1Val) rs1131691049
NM_003000.3(SDHB):c.200+1G>A rs2101541309
NM_003000.3(SDHB):c.210dup (p.Met71fs) rs794728947
NM_003000.3(SDHB):c.286+1G>A rs786201063
NM_003000.3(SDHB):c.286+2T>A rs587781270
NM_003000.3(SDHB):c.287-1G>C rs397516833
NM_003000.3(SDHB):c.287-2A>G rs1064794270
NM_003000.3(SDHB):c.311delinsGG (p.Asn104fs) rs786201316
NM_003000.3(SDHB):c.375_376delinsGT (p.Lys126Ter) rs2525020453
NM_003000.3(SDHB):c.3G>A (p.Met1Ile) rs1131691061
NM_003000.3(SDHB):c.423+1G>A rs398122805
NM_003000.3(SDHB):c.423+2T>C
NM_003000.3(SDHB):c.42_43insCACTCTCCTTGAGGCGCCGGTTGCCG (p.Ala15delinsHisSerProTer) rs2101551748
NM_003000.3(SDHB):c.444_445delinsTCTATGG (p.Gln149fs)
NM_003000.3(SDHB):c.445C>T (p.Gln149Ter) rs876658451
NM_003000.3(SDHB):c.505C>T (p.Gln169Ter) rs1553177676
NM_003000.3(SDHB):c.541-2A>G rs786201161
NM_003000.3(SDHB):c.574T>C (p.Cys192Arg) rs786202732
NM_003000.3(SDHB):c.587G>A (p.Cys196Tyr) rs876658367
NM_003000.3(SDHB):c.603G>A (p.Trp201Ter) rs2077977917
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter) rs876658461
NM_003000.3(SDHB):c.653G>A (p.Trp218Ter) rs1553177290
NM_003000.3(SDHB):c.682del (p.Glu228fs)
NM_003000.3(SDHB):c.716_719del (p.Ser239fs) rs587781266
NM_003000.3(SDHB):c.718_721del (p.Leu240fs) rs794728950
NM_003000.3(SDHB):c.71dup (p.Ala25fs) rs1131691057
NM_003000.3(SDHB):c.72+1G>T rs587782703
NM_003000.3(SDHB):c.723C>G (p.Tyr241Ter)

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