ClinVar Miner

List of variants in gene SDHB studied for Carney-Stratakis syndrome

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Total variants: 29
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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.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_003000.2(SDHB):c.-139G>T rs114522228 0.00671
NM_003000.3(SDHB):c.24C>T (p.Ser8=) rs148738139 0.00461
NM_003000.3(SDHB):c.-37T>C rs143031690 0.00411
NM_003000.3(SDHB):c.170A>G (p.His57Arg) rs35962811 0.00231
NM_003000.3(SDHB):c.300T>C (p.Ser100=) rs11541235 0.00157
NM_003000.3(SDHB):c.21C>T (p.Leu7=) rs147815442 0.00054
NM_003000.3(SDHB):c.158G>A (p.Gly53Glu) rs34916635 0.00041
NM_003000.3(SDHB):c.*102A>G rs201155896 0.00019
NM_003000.3(SDHB):c.113G>A (p.Arg38His) rs143058777 0.00010
NM_003000.3(SDHB):c.178A>G (p.Thr60Ala) rs34599281 0.00007
NM_003000.3(SDHB):c.344G>A (p.Arg115Gln) rs200973284 0.00003
NM_003000.2(SDHB):c.-135G>A rs886045587 0.00001
NM_003000.2(SDHB):c.-142A>G rs886045588 0.00001
NM_003000.3(SDHB):c.299C>G (p.Ser100Cys) rs121917755 0.00001
NM_003000.3(SDHB):c.47C>G (p.Thr16Arg) rs775350144 0.00001
NM_003000.3(SDHB):c.541-3C>T rs751920183 0.00001
NM_003000.3(SDHB):c.700C>T (p.Leu234=) rs201728852 0.00001
NM_003000.2(SDHB):c.-81G>T rs886045586
NM_003000.2(SDHB):c.424-16_424-14dup rs34261028
NM_003000.3(SDHB):c.*133T>C rs111686611
NM_003000.3(SDHB):c.395A>G (p.His132Arg) rs74315372
NM_003000.3(SDHB):c.423+1G>C rs398122805
NM_003000.3(SDHB):c.424-37TTC[6] rs34261028
NM_003000.3(SDHB):c.454T>C (p.Ser152Pro) rs886045584
NM_003000.3(SDHB):c.540+8G>T rs2077999169
NM_003000.3(SDHB):c.716C>T (p.Ser239Phe) rs201098090

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