ClinVar Miner

List of variants studied for Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Paragangliomas 3

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_003001.5(SDHC):c.-38G>A rs112556972 0.01611
NM_003001.5(SDHC):c.*78G>A rs182629842 0.00178
NM_003001.5(SDHC):c.405+13G>A rs369274171 0.00008
NM_003001.5(SDHC):c.98C>T (p.Thr33Met) rs148566767 0.00007
NM_003001.5(SDHC):c.377A>G (p.Tyr126Cys) rs898854295 0.00003
NM_003001.5(SDHC):c.11T>C (p.Leu4Pro) rs774299337 0.00002
NM_003001.5(SDHC):c.43C>T (p.Arg15Ter) rs201286421 0.00002
NM_003001.5(SDHC):c.128A>G (p.Asn43Ser) rs747349777 0.00001
NM_003001.5(SDHC):c.214C>T (p.Arg72Cys) rs756676111 0.00001
NM_003001.5(SDHC):c.25G>A (p.Val9Ile) rs774768866 0.00001
NM_003001.5(SDHC):c.263C>T (p.Ser88Leu) rs778212096 0.00001
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) rs764575966 0.00001
NM_003001.5(SDHC):c.436C>A (p.Pro146Thr) rs541660851 0.00001
NM_003001.5(SDHC):c.54T>G (p.Phe18Leu) rs200761743 0.00001
NM_003001.5(SDHC):c.82G>T (p.Val28Phe) rs754818119 0.00001
NM_003001.5(SDHC):c.160C>A (p.Pro54Thr) rs1553262444
NM_003001.5(SDHC):c.356C>T (p.Ala119Val) rs2526537440
NM_003001.5(SDHC):c.422A>G (p.Lys141Arg) rs1558185879
NM_003001.5(SDHC):c.4G>C (p.Ala2Pro) rs1198315342
NM_003001.5(SDHC):c.7G>T (p.Ala3Ser) rs748243732

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