ClinVar Miner

List of variants in gene SDHB reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_003000.3(SDHB):c.18C>A (p.Ala6=) rs2746462 0.95374
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly) rs11203289 0.01309
NM_003000.3(SDHB):c.170A>G (p.His57Arg) rs35962811 0.00231
NM_003000.3(SDHB):c.423+20T>A rs190139590 0.00179
NM_003000.3(SDHB):c.300T>C (p.Ser100=) rs11541235 0.00157
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.380T>G (p.Ile127Ser) rs786201095 0.00001
NM_003000.2(SDHB):c.*159_*184delinsGAACCTGTTCCTTTACTTGCCCCAA rs727503414
NM_003000.2(SDHB):c.424-16_424-14dup rs34261028
NM_003000.3(SDHB):c.260T>C (p.Leu87Ser) rs727504457
NM_003000.3(SDHB):c.277T>C (p.Cys93Arg) rs727503415
NM_003000.3(SDHB):c.287-1G>C rs397516833
NM_003000.3(SDHB):c.415C>T (p.Leu139Phe) rs397516834
NM_003000.3(SDHB):c.445_446insTATGG (p.Gln149fs) rs1553177688
NM_003000.3(SDHB):c.575G>C (p.Cys192Ser) rs397516835
NM_003000.3(SDHB):c.600G>A (p.Trp200Ter) rs397516836
NM_003000.3(SDHB):c.722A>G (p.Tyr241Cys) rs878854582
NM_003000.3(SDHB):c.79C>G (p.Arg27Gly) rs74315369

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