List of variants in gene DIAPH1 reported as pathogenic by GeneDx

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_005219.5(DIAPH1):c.1971_1972delinsT (p.Leu657fs)	rs1064794044
NM_005219.5(DIAPH1):c.2794C>T (p.Arg932Ter)	rs1057524293
NM_005219.5(DIAPH1):c.2905_2906dup (p.Ser970fs)	rs1554201397
NM_005219.5(DIAPH1):c.3145C>T (p.Arg1049Ter)	rs863225243
NM_005219.5(DIAPH1):c.3637C>T (p.Arg1213Ter)	rs876657776

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