ClinVar Miner

List of variants reported as uncertain significance for Carney-Stratakis syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_003000.3(SDHB):c.*102A>G rs201155896 0.00019
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_003000.2(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.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.65G>T (p.Cys22Phe) rs141230910
NM_003000.3(SDHB):c.716C>T (p.Ser239Phe) rs201098090

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