ClinVar Miner

List of variants reported as pathogenic for Carney-Stratakis syndrome by OMIM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_003000.3(SDHB):c.423+1G>C	rs398122805
NM_003000.3(SDHB):c.72+1G>T	rs587782703
NM_003001.5(SDHC):c.405+1G>A	rs587776653
NM_003002.4(SDHD):c.57del (p.Leu20fs)	rs587776649

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