ClinVar Miner

List of variants in gene CDAN1 reported as pathogenic for anemia

Included ClinVar conditions (280):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_138477.4(CDAN1):c.1860+5G>A rs113313967 0.00051
NM_138477.4(CDAN1):c.2059C>T (p.Arg687Cys) rs181448047 0.00024
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.1055_1056del (p.Leu352fs) rs2140505826
NM_138477.4(CDAN1):c.1117_1119del (p.Val373del) rs120074169
NM_138477.4(CDAN1):c.1239T>A (p.Tyr413Ter) rs1336651679
NM_138477.4(CDAN1):c.1596dup (p.Met533fs) rs778822407
NM_138477.4(CDAN1):c.169del (p.Phe56_Leu57insTer)
NM_138477.4(CDAN1):c.2087T>A (p.Leu696Gln)
NM_138477.4(CDAN1):c.2602T>A (p.Phe868Ile) rs120074168
NM_138477.4(CDAN1):c.2852_2853del (p.Glu951fs) rs2140471687
NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp) rs80338697

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