ClinVar Miner

List of variants reported as likely pathogenic by Section on Endocrinology and Genetics,National Institutes of Health / The Eunice Kennedy Shriver National Institute of Child Health and Human Development

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Total variants: 6
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HGVS dbSNP
NM_003000.2(SDHB):c.380T>G (p.Ile127Ser) rs786201095
NM_003001.3(SDHC):c.224G>A (p.Gly75Asp) rs786205147
NM_003001.3(SDHC):c.405+1G>A rs587776653
NM_003001.3(SDHC):c.6delT (p.Ala3Argfs) rs786205146
NM_004168.3(SDHA):c.295C>T (p.His99Tyr) rs786205145
NM_004168.3(SDHA):c.91C>T (p.Arg31Ter) rs142441643

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