List of variants in gene DIAPH1 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: 13

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HGVS	dbSNP	gnomAD frequency
NM_005219.5(DIAPH1):c.1364G>A (p.Arg455Gln)	rs200004048	0.00006
NM_005219.5(DIAPH1):c.145-1G>A	rs763349669	0.00001
NM_005219.5(DIAPH1):c.1044+1G>A
NM_005219.5(DIAPH1):c.1280+2T>G	rs2154596416
NM_005219.5(DIAPH1):c.144+2T>G
NM_005219.5(DIAPH1):c.2676+2T>G
NM_005219.5(DIAPH1):c.2945T>G (p.Leu982Arg)	rs1596339533
NM_005219.5(DIAPH1):c.3268dup (p.Met1090fs)	rs1235751512
NM_005219.5(DIAPH1):c.3629_3630del (p.Ala1210fs)	rs1596335566
NM_005219.5(DIAPH1):c.402+2T>C	rs2154596613
NM_005219.5(DIAPH1):c.533+1G>T
NM_005219.5(DIAPH1):c.621-2A>G	rs2099896905
NM_005219.5(DIAPH1):c.791C>A (p.Ser264Tyr)

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