ClinVar Miner

List of variants reported as likely pathogenic for anemia, congenital dyserythropoietic, type 1a

Included ClinVar conditions (1):
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Total variants: 9
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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.2062C>T (p.Arg688Trp)
NM_138477.4(CDAN1):c.230del (p.Gly77fs)
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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