List of variants in gene CDAN1 reported as pathogenic for anemia, congenital dyserythropoietic, type 1a

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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: 11

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HGVS	dbSNP	gnomAD frequency
NM_138477.4(CDAN1):c.2059C>T (p.Arg687Cys)	rs181448047	0.00024
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu)	rs120074167	0.00013
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu)	rs80338699	0.00005
NM_138477.4(CDAN1):c.1055_1056del (p.Leu352fs)	rs2140505826
NM_138477.4(CDAN1):c.1239T>A (p.Tyr413Ter)	rs1336651679
NM_138477.4(CDAN1):c.1596dup (p.Met533fs)	rs778822407
NM_138477.4(CDAN1):c.169del (p.Phe56_Leu57insTer)
NM_138477.4(CDAN1):c.2044C>T (p.Arg682Ter)	rs375339408
NM_138477.4(CDAN1):c.2087T>A (p.Leu696Gln)
NM_138477.4(CDAN1):c.2852_2853del (p.Glu951fs)	rs2140471687
NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp)	rs80338697

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