ClinVar Miner

List of variants studied for Retinitis pigmentosa 45 by 3billion

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001297.5(CNGB1):c.2794+1G>A rs770011113 0.00009
NM_001297.5(CNGB1):c.2893-7G>A rs749199721 0.00003
NM_001297.5(CNGB1):c.217+5G>C rs527236060 0.00002
NM_001297.5(CNGB1):c.2921T>G (p.Met974Arg) rs752967885 0.00001
NM_001297.5(CNGB1):c.2977-1G>A rs865818297 0.00001
NM_001297.5(CNGB1):c.805C>T (p.Gln269Ter) rs753776329 0.00001
NM_001297.5(CNGB1):c.1958-1G>A rs888090139
NM_001297.5(CNGB1):c.2544del (p.Leu849fs) rs760430056

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