List of variants in gene DIAPH1 reported as likely pathogenic for autosomal recessive disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_005219.5(DIAPH1):c.145-1G>A	rs763349669	0.00001
NM_005219.5(DIAPH1):c.1280+2T>G	rs2154596416
NM_005219.5(DIAPH1):c.144+2T>G
NM_005219.5(DIAPH1):c.1838dup (p.Pro614fs)	rs2154596304
NM_005219.5(DIAPH1):c.2676+2T>G
NM_005219.5(DIAPH1):c.2945T>G (p.Leu982Arg)	rs1596339533
NM_005219.5(DIAPH1):c.402+2T>C	rs2154596613
NM_005219.5(DIAPH1):c.621-2A>G	rs2099896905

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