ClinVar Miner

List of variants in gene SDHD reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_003002.4(SDHD):c.*613T>C rs693441 0.93280
NM_003002.4(SDHD):c.204C>T (p.Ser68=) rs9919552 0.11428
NM_003002.4(SDHD):c.*803A>G rs17113461 0.10714
NM_003002.4(SDHD):c.*260T>A rs149570245 0.04112
NM_003002.4(SDHD):c.*428A>G rs184654032 0.00590
NM_003002.4(SDHD):c.*822T>C rs201472512 0.00133
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu) rs201372601 0.00002
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_003002.4(SDHD):c.335C>T (p.Thr112Ile) rs199869408 0.00001
NM_003002.3(SDHD):c.*(?_286)_*(387_?)del
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) rs80338843
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys) rs104894304

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