ClinVar Miner

List of variants in gene SDHB studied for mitochondrial complex 2 deficiency, nuclear type 4

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_003000.3(SDHB):c.201-36G>T rs1022580 0.95416
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.32G>A (p.Arg11His) rs111430410 0.00185
NM_003000.3(SDHB):c.300T>C (p.Ser100=) rs11541235 0.00157
NM_003000.3(SDHB):c.455C>T (p.Ser152Phe) rs200414835 0.00012
NM_003000.3(SDHB):c.113G>A (p.Arg38His) rs143058777 0.00010
NM_003000.3(SDHB):c.317A>G (p.Asn106Ser) rs934514080 0.00006
NM_003000.3(SDHB):c.709C>T (p.Pro237Ser) rs186768244 0.00004
NM_003000.3(SDHB):c.304G>A (p.Ala102Thr) rs777578399 0.00003
NM_003000.3(SDHB):c.418G>T (p.Val140Phe) rs267607032 0.00003
NM_003000.3(SDHB):c.544G>A (p.Gly182Arg) rs201928318 0.00003
NM_003000.3(SDHB):c.400T>C (p.Tyr134His) rs771004483 0.00002
NM_003000.3(SDHB):c.143A>T (p.Asp48Val) rs202101384 0.00001
NM_003000.3(SDHB):c.343C>G (p.Arg115Gly) rs751000085 0.00001
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser) rs786201095 0.00001
NM_003000.3(SDHB):c.553G>A (p.Glu185Lys) rs1045881797 0.00001
NM_003000.3(SDHB):c.689G>A (p.Arg230His) rs587782604 0.00001
NM_003000.3(SDHB):c.719T>C (p.Leu240Pro) rs1131691046 0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His) rs74315368 0.00001
NM_003000.3(SDHB):c.749C>T (p.Thr250Ile) rs1057517537 0.00001
NM_003000.3(SDHB):c.769C>G (p.Leu257Val) rs761350633 0.00001
NM_003000.3(SDHB):c.166_170del (p.Pro56fs) rs786202100
NM_003000.3(SDHB):c.193C>T (p.Leu65Phe) rs786202185
NM_003000.3(SDHB):c.379A>C (p.Ile127Leu) rs201372280
NM_003000.3(SDHB):c.385C>T (p.Pro129Ser) rs1553177740
NM_003000.3(SDHB):c.395A>G (p.His132Arg) rs74315372
NM_003000.3(SDHB):c.424-1G>A rs1131691060
NM_003000.3(SDHB):c.424-37TTC[10] rs34261028
NM_003000.3(SDHB):c.46A>G (p.Thr16Ala) rs1433760506
NM_003000.3(SDHB):c.541-2A>G rs786201161
NM_003000.3(SDHB):c.574T>C (p.Cys192Arg) rs786202732
NM_003000.3(SDHB):c.589C>T (p.Pro197Ser) rs2077978300
NM_003000.3(SDHB):c.637dup (p.Met213fs)

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