ClinVar Miner

List of variants in gene SDHB studied for Cowden syndrome

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly) rs11203289 0.01214
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_003000.3(SDHB):c.170A>G (p.His57Arg) rs35962811 0.00221
NM_003000.3(SDHB):c.21C>T (p.Leu7=) rs147815442 0.00050
NM_003000.3(SDHB):c.440A>G (p.Tyr147Cys) rs774568101 0.00010
NM_003000.3(SDHB):c.178A>G (p.Thr60Ala) rs34599281 0.00007
NM_003000.3(SDHB):c.700C>T (p.Leu234=) rs201728852 0.00001
NM_003000.3(SDHB):c.769C>G (p.Leu257Val) rs761350633 0.00001
NM_003000.3(SDHB):c.424-37TTC[6] rs34261028
NM_003000.3(SDHB):c.559A>G (p.Ile187Val) rs1557739989
NM_003000.3(SDHB):c.638T>C (p.Met213Thr) rs202014362
NM_003000.3(SDHB):c.721T>G (p.Tyr241Asp) rs1060503758
NM_003000.3(SDHB):c.79C>G (p.Arg27Gly) rs74315369

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