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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001379270.1(CNGA1):c.640C>T (p.Arg214Ter)	rs759781200	0.00009
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.1003_1007del (p.Asn334_Asp335insTer)	rs910102517	0.00004
NM_001379270.1(CNGA1):c.1044C>A (p.Ser348Arg)	rs759079269	0.00003
NM_001379270.1(CNGA1):c.1121T>C (p.Val374Ala)	rs765792753	0.00001
NM_001379270.1(CNGA1):c.1142G>C (p.Gly381Ala)	rs749990018	0.00001
NM_001379270.1(CNGA1):c.1666C>T (p.Arg556Ter)	rs567961453	0.00001
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.298G>T (p.Glu100Ter)
NM_001379270.1(CNGA1):c.305del (p.Lys102fs)	rs1560621807
NM_001379270.1(CNGA1):c.825_826del (p.Arg276fs)

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