ClinVar Miner

List of variants in gene combination CDAN1, LOC130056931 reported as uncertain significance for anemia, congenital dyserythropoietic, type 1a

Included ClinVar conditions (1):
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_138477.4(CDAN1):c.256C>T (p.Pro86Ser) rs543791953 0.00022
NM_138477.4(CDAN1):c.278_279delinsAT (p.Ser93Asn) rs2140513573
NM_138477.4(CDAN1):c.313G>A (p.Glu105Lys)
NM_138477.4(CDAN1):c.463G>A (p.Gly155Ser)
NM_138477.4(CDAN1):c.494C>T (p.Thr165Met)

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