ClinVar Miner

List of variants in gene SDHC reported as likely pathogenic for Paragangliomas 3

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_003001.5(SDHC):c.377A>G (p.Tyr126Cys) rs898854295 0.00003
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys) rs587778661 0.00001
NC_000001.10:g.(?_161310384)_(161310445_?)dup
NM_003001.5(SDHC):c.180-2A>G rs1363265634
NM_003001.5(SDHC):c.379C>G (p.His127Asp) rs1485675090
NM_003001.5(SDHC):c.406-1G>A
NM_003001.5(SDHC):c.422_423insT (p.Lys141fs) rs1672548902
NM_003001.5(SDHC):c.77+1G>C

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