List of variants in gene CP reported as likely pathogenic for perceptual disorders

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_000096.4(CP):c.1948G>A (p.Gly650Arg)	rs776936158	0.00002
NM_000096.4(CP):c.583G>A (p.Gly195Arg)	rs750451693	0.00002
NM_000096.4(CP):c.656T>A (p.Val219Glu)	rs587780321	0.00001
NM_000096.4(CP):c.1348+2T>C
NM_000096.4(CP):c.1679G>T (p.Cys560Phe)	rs1064797073
NM_000096.4(CP):c.2078-75_2241del
NM_000096.4(CP):c.2242C>T (p.Gln748Ter)
NM_000096.4(CP):c.2260G>T (p.Glu754Ter)
NM_000096.4(CP):c.2285+2T>C
NM_000096.4(CP):c.267G>A (p.Trp89Ter)
NM_000096.4(CP):c.2756T>C (p.Leu919Pro)	rs1135401784
NM_000096.4(CP):c.2879-1G>T	rs386134141
NM_000096.4(CP):c.3G>T (p.Met1Ile)
NM_000096.4(CP):c.607+1del	rs753254095
NM_000096.4(CP):c.632_633del (p.Lys211fs)
NM_000096.4(CP):c.848G>C (p.Trp283Ser)	rs386134126

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