List of variants in gene combination CNGA1, LOC101927157 reported as likely 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)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001379270.1(CNGA1):c.503T>G (p.Ile168Ser)	rs373448145	0.00006
NM_001379270.1(CNGA1):c.827G>A (p.Arg276His)	rs375412499	0.00004
NM_001379270.1(CNGA1):c.1044C>A (p.Ser348Arg)	rs759079269	0.00003
NM_001379270.1(CNGA1):c.1621G>A (p.Gly541Ser)	rs527236057	0.00001
NM_001379270.1(CNGA1):c.1619T>G (p.Phe540Cys)	rs1578059695
NM_001379270.1(CNGA1):c.1743_1746del (p.Thr582fs)	rs768694789
NM_001379270.1(CNGA1):c.179del (p.Gly60fs)	rs527236058
NM_001379270.1(CNGA1):c.234C>A (p.Tyr78Ter)	rs1436425494
NM_001379270.1(CNGA1):c.546-1G>C	rs1037963003
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)	rs62625014
NM_001379270.1(CNGA1):c.977A>G (p.Asp326Gly)	rs527236059

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