ClinVar Miner

List of variants studied for Retinitis pigmentosa 49 by 3billion

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001379270.1(CNGA1):c.1673C>T (p.Thr558Met) rs151223668 0.00007
NM_001379270.1(CNGA1):c.82C>T (p.Arg28Ter) rs199636364 0.00006
NM_001379270.1(CNGA1):c.253del (p.Leu85fs) rs749012133 0.00004
NM_001379270.1(CNGA1):c.1079G>A (p.Gly360Asp) rs965734036

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