ClinVar Miner

List of variants in gene combination CNGA1, LOC101927157 reported as pathogenic for Retinitis pigmentosa

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001379270.1(CNGA1):c.640C>T (p.Arg214Ter) rs759781200 0.00010
NM_001379270.1(CNGA1):c.82C>T (p.Arg28Ter) rs199636364 0.00006
NM_001379270.1(CNGA1):c.1528C>T (p.Arg510Ter) rs199584830 0.00005
NM_001379270.1(CNGA1):c.1044C>A (p.Ser348Arg) rs759079269 0.00003
NM_001379270.1(CNGA1):c.1121T>C (p.Val374Ala) rs765792753 0.00002
NM_001379270.1(CNGA1):c.1142G>C (p.Gly381Ala) rs749990018 0.00002
NM_001379270.1(CNGA1):c.1666C>T (p.Arg556Ter) rs567961453 0.00001
NM_001379270.1(CNGA1):c.1028G>C (p.Arg343Thr) rs752003888
NM_001379270.1(CNGA1):c.1093C>A (p.Pro365Thr) rs867483436
NM_001379270.1(CNGA1):c.1210_1214del (p.Ala404fs) rs1738719686
NM_001379270.1(CNGA1):c.305del (p.Lys102fs) rs1560621807

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