ClinVar Miner

List of variants in gene CDAN1, LOC130056931 studied for anemia, congenital dyserythropoietic, type 1a

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_138477.4(CDAN1):c.320A>T (p.Gln107Leu) rs4265781 0.41423
NM_138477.4(CDAN1):c.477C>T (p.Pro159=) rs7167392 0.26335
NM_138477.4(CDAN1):c.443C>T (p.Ala148Val) rs73410959 0.06134
NM_138477.4(CDAN1):c.309G>T (p.Pro103=) rs575562332 0.00350
NM_138477.4(CDAN1):c.237G>C (p.Ser79=) rs180857061 0.00344
NM_138477.4(CDAN1):c.386G>A (p.Arg129His) rs12441516 0.00155
NM_138477.4(CDAN1):c.256C>T (p.Pro86Ser) rs543791953 0.00022
NM_138477.4(CDAN1):c.230del (p.Gly77fs)
NM_138477.4(CDAN1):c.278_279delinsAT (p.Ser93Asn) rs2140513573
NM_138477.4(CDAN1):c.313G>A (p.Glu105Lys)
NM_138477.4(CDAN1):c.375G>A (p.Pro125=)
NM_138477.4(CDAN1):c.463G>A (p.Gly155Ser)
NM_138477.4(CDAN1):c.494C>T (p.Thr165Met)

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