List of variants in gene CDAN1 reported as likely pathogenic for congenital dyserythropoietic anemia

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu)	rs120074167	0.00013
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu)	rs80338694	0.00009
NM_138477.4(CDAN1):c.2140C>T (p.Arg714Trp)	rs80338696	0.00008
NM_138477.4(CDAN1):c.3200G>A (p.Arg1067His)	rs146049960	0.00002
NM_138477.4(CDAN1):c.2062C>T (p.Arg688Trp)
NM_138477.4(CDAN1):c.2066C>A (p.Ala689Glu)	rs140334403
NM_138477.4(CDAN1):c.2173C>T (p.Arg725Trp)	rs138334226
NM_138477.4(CDAN1):c.2403dup (p.Ile802fs)
NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp)	rs80338697
NM_138477.4(CDAN1):c.3290dup (p.Gly1098fs)
NM_138477.4(CDAN1):c.788del (p.Gln263fs)
NM_138477.4(CDAN1):c.885_886del (p.Arg295fs)

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