ClinVar Miner

List of variants studied for Paragangliomas 4 by MGZ Medical Genetics Center

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser) rs786201095 0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His) rs74315368 0.00001
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) rs80338845 0.00001
NM_003000.3(SDHB):c.286+1G>A rs786201063
NM_003000.3(SDHB):c.287-2A>G rs1064794270
NM_003000.3(SDHB):c.572G>A (p.Cys191Tyr) rs2077978456

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