ClinVar Miner

List of variants studied for Paragangliomas 4 by Color Diagnostics, LLC DBA Color Health

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Total variants: 23
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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_003000.3(SDHB):c.24C>T (p.Ser8=) rs148738139 0.00461
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.543C>T (p.Asp181=) rs199809975 0.00009
NM_003000.3(SDHB):c.606C>T (p.Asn202=) rs199653121 0.00005
NM_003000.3(SDHB):c.136C>T (p.Arg46Ter) rs74315370 0.00003
NM_003000.3(SDHB):c.418G>T (p.Val140Phe) rs267607032 0.00003
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056 0.00001
NM_003000.3(SDHB):c.172A>G (p.Met58Val) rs1201188410 0.00001
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser) rs786201095 0.00001
NM_003000.3(SDHB):c.649C>T (p.Arg217Cys) rs200245469 0.00001
NM_003000.2(SDHB):c.424-16_424-14dup rs34261028
NM_003000.3(SDHB):c.3G>A (p.Met1Ile) rs1131691061
NM_003000.3(SDHB):c.424-37TTC[10] rs34261028
NM_003000.3(SDHB):c.424-37TTC[6] rs34261028
NM_003000.3(SDHB):c.724C>A (p.Arg242Ser) rs786203251
NM_003000.3(SDHB):c.73-2A>C
NM_003000.3(SDHB):c.758G>A (p.Cys253Tyr) rs786201085

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