ClinVar Miner

List of variants in gene DIAPH1 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_005219.5(DIAPH1):c.2901dup (p.Arg968fs)	rs2099887774
NM_005219.5(DIAPH1):c.3268dup (p.Met1090fs)	rs1235751512

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