ClinVar Miner

List of variants studied for Retinitis pigmentosa 49 by Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001379270.1(CNGA1):c.1259G>A (p.Arg420Gln) rs192912733 0.00034
NM_001297.5(CNGB1):c.1589C>G (p.Pro530Arg) rs201553871 0.00008
NM_001379270.1(CNGA1):c.253del (p.Leu85fs) rs749012133 0.00004
NM_001379270.1(CNGA1):c.179del (p.Gly60fs) rs527236058

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