ClinVar Miner

List of variants in gene SDHB reported as likely benign for Carney-Stratakis syndrome

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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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.170A>G (p.His57Arg) rs35962811 0.00221
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.21C>T (p.Leu7=) rs147815442 0.00050
NM_003000.3(SDHB):c.158G>A (p.Gly53Glu) rs34916635 0.00041
NM_003000.3(SDHB):c.113G>A (p.Arg38His) rs143058777 0.00010
NM_003000.3(SDHB):c.543C>T (p.Asp181=) rs199809975 0.00009
NM_003000.3(SDHB):c.552C>T (p.Tyr184=) rs202098600 0.00005
NM_003000.3(SDHB):c.700C>T (p.Leu234=) rs201728852 0.00001
NM_003000.3(SDHB):c.424-37TTC[10] rs34261028
NM_003000.3(SDHB):c.424-37TTC[7] rs34261028

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