List of variants in gene CABP2 studied 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
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_016366.3(CABP2):c.281G>A (p.Arg94Gln)	rs2276118	0.41880
NM_016366.3(CABP2):c.188G>A (p.Arg63Gln)	rs149431491	0.00399
NM_016366.3(CABP2):c.637+1G>T	rs149712664	0.00102
NM_016366.3(CABP2):c.590T>C (p.Ile197Thr)	rs145369252	0.00068
NM_016366.3(CABP2):c.143A>C (p.Tyr48Ser)	rs760234562	0.00016
NM_016366.3(CABP2):c.3G>A (p.Met1Ile)	rs1354716315	0.00003
NM_016366.3(CABP2):c.232G>A (p.Glu78Lys)	rs1391730624	0.00001
NM_016366.3(CABP2):c.470T>C (p.Leu157Pro)	rs1349245853	0.00001
NM_016366.3(CABP2):c.127C>T (p.Pro43Ser)
NM_016366.3(CABP2):c.274C>T (p.Arg92Ter)
NM_016366.3(CABP2):c.482del (p.Phe161fs)	rs368437370
NM_016366.3(CABP2):c.490-8C>A	rs776117741
NM_016366.3(CABP2):c.60C>A (p.Leu20=)

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