ClinVar Miner

List of variants in gene SDHB reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_003000.3(SDHB):c.418G>T (p.Val140Phe) rs267607032 0.00003
NM_003000.3(SDHB):c.79C>T (p.Arg27Ter) rs74315369 0.00003
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.689G>A (p.Arg230His) rs587782604 0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His) rs74315368 0.00001
NM_003000.3(SDHB):c.166_170del (p.Pro56fs) rs786202100
NM_003000.3(SDHB):c.287-1G>C rs397516833
NM_003000.3(SDHB):c.305_315del (p.Ala102fs)
NM_003000.3(SDHB):c.470del (p.Tyr156_Leu157insTer) rs2077999823
NM_003000.3(SDHB):c.541-2A>G rs786201161
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter) rs876658461
NM_003000.3(SDHB):c.716_719del (p.Ser239fs) rs587781266
NM_003000.3(SDHB):c.724C>A (p.Arg242Ser) rs786203251

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