List of variants in gene CNGA3 reported as pathogenic for Achromatopsia 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 41

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HGVS	dbSNP	gnomAD frequency
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys)	rs141386891	0.00036
NM_001298.3(CNGA3):c.967G>C (p.Ala323Pro)	rs146195955	0.00033
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala)	rs149802213	0.00022
NM_001298.3(CNGA3):c.1694C>T (p.Thr565Met)	rs201747279	0.00019
NM_001298.3(CNGA3):c.101+1G>A	rs147118493	0.00014
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg)	rs104893615	0.00012
NM_001298.3(CNGA3):c.848G>A (p.Arg283Gln)	rs104893614	0.00010
NM_001298.3(CNGA3):c.667C>T (p.Arg223Trp)	rs138958917	0.00008
NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys)	rs104893620	0.00007
NM_001298.3(CNGA3):c.1228C>T (p.Arg410Trp)	rs137852608	0.00004
NM_001298.3(CNGA3):c.1585G>A (p.Val529Met)	rs104893619	0.00004
NM_001298.3(CNGA3):c.1688G>A (p.Arg563His)	rs552069173	0.00004
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp)	rs104893621	0.00003
NM_001298.3(CNGA3):c.67C>T (p.Arg23Ter)	rs777509481	0.00003
NM_001298.3(CNGA3):c.1642G>A (p.Gly548Arg)	rs781227859	0.00002
NM_001298.3(CNGA3):c.450-1G>A	rs754158805	0.00002
NM_001298.3(CNGA3):c.62C>G (p.Ser21Ter)	rs1402442627	0.00002
NM_001298.3(CNGA3):c.830G>A (p.Arg277His)	rs778114016	0.00002
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp)	rs104893613	0.00002
NM_001298.3(CNGA3):c.1315C>T (p.Arg439Trp)	rs749842881	0.00001
NM_001298.3(CNGA3):c.1717T>C (p.Tyr573His)	rs1330420689	0.00001
NM_001298.3(CNGA3):c.1768G>A (p.Glu590Lys)	rs763041373	0.00001
NM_001298.3(CNGA3):c.488C>T (p.Pro163Leu)	rs104893612	0.00001
NM_001298.3(CNGA3):c.513G>A (p.Trp171Ter)	rs762773298	0.00001
NC_000002.12:g.98393909_98399093del
NM_001298.3(CNGA3):c.1116del (p.Pro372_Val373insTer)	rs958089715
NM_001298.3(CNGA3):c.1235_1236del (p.Glu412fs)	rs1692914478
NM_001298.3(CNGA3):c.1310_1312delinsAG (p.Val437fs)	rs1558820471
NM_001298.3(CNGA3):c.1320del (p.Trp440fs)	rs1553450762
NM_001298.3(CNGA3):c.1443dup (p.Ile482fs)
NM_001298.3(CNGA3):c.1519del (p.Asp507fs)	rs745592705
NM_001298.3(CNGA3):c.1573G>A (p.Gly525Ser)	rs786205532
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu)	rs104893617
NM_001298.3(CNGA3):c.332_333delinsAA (p.Ser111Ter)	rs1692508715
NM_001298.3(CNGA3):c.340G>T (p.Glu114Ter)	rs1692509021
NM_001298.3(CNGA3):c.464del (p.Lys155fs)	rs2104229154
NM_001298.3(CNGA3):c.560T>C (p.Ile187Thr)	rs1574385431
NM_001298.3(CNGA3):c.674-1G>A	rs949254623
NM_001298.3(CNGA3):c.77del (p.Asn26fs)	rs2104175554
NM_001298.3(CNGA3):c.872C>G (p.Thr291Arg)	rs104893616
NM_001298.3(CNGA3):c.902_903delinsAA (p.Phe301Ter)	rs1692904914

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