ClinVar Miner

List of variants in gene CNGB1 reported as likely benign for Retinitis pigmentosa 45

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001297.5(CNGB1):c.1122-15C>T rs2303778 0.46316
NM_001297.5(CNGB1):c.3527C>T (p.Pro1176Leu) rs73562944 0.01041
NM_001297.5(CNGB1):c.1626C>T (p.Thr542=) rs148735841 0.00308
NM_001297.5(CNGB1):c.1204G>A (p.Asp402Asn) rs140907154 0.00157
NM_001297.5(CNGB1):c.2370-9C>T rs374373659 0.00055
NM_001297.5(CNGB1):c.412+8C>A rs185727761 0.00030
NM_001297.5(CNGB1):c.838-4G>T rs375539469 0.00022
NM_001297.5(CNGB1):c.2958C>T (p.Asn986=) rs543509332 0.00006

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