ClinVar Miner

List of variants studied for Congenital dyserythropoietic anemia, type I by OMIM

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_138477.4(CDAN1):c.1860+5G>A rs113313967 0.00051
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.1796A>G (p.Asn599Ser) rs120074166 0.00001
NM_138477.4(CDAN1):c.1117_1119del (p.Val373del) rs120074169
NM_138477.4(CDAN1):c.2602T>A (p.Phe868Ile) rs120074168
NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp) rs80338697

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