ClinVar Miner

List of variants reported as benign for congenital dyserythropoietic anemia type 1

Included ClinVar conditions (3):
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001321759.2(CDIN1):c.273+82C>T rs10220785 0.95448
NM_001321759.2(CDIN1):c.274-82T>A rs6495863 0.95445
NM_001321759.2(CDIN1):c.148-19G>T rs11073191 0.95366
NM_001321759.2(CDIN1):c.477-55G>A rs2381887 0.78569
NM_001321759.2(CDIN1):c.476+33T>C rs3743338 0.55611
NM_001321759.2(CDIN1):c.-105C>T rs3743337 0.48044
NM_001321759.2(CDIN1):c.217C>G (p.Leu73Val) rs3784678 0.43599
NM_138477.4(CDAN1):c.3474A>C (p.Leu1158=) rs16957091 0.41429
NM_138477.4(CDAN1):c.320A>T (p.Gln107Leu) rs4265781 0.41423
NM_138477.4(CDAN1):c.*142A>G rs3742987 0.41378
NM_138477.4(CDAN1):c.1787A>G (p.Gln596Arg) rs12917189 0.40225
NM_138477.4(CDAN1):c.*214T>C rs3742988 0.39766
NM_138477.4(CDAN1):c.2352+8C>T rs12594483 0.34139
NM_138477.4(CDAN1):c.477C>T (p.Pro159=) rs7167392 0.26335
NM_138477.4(CDAN1):c.2671C>T (p.Arg891Cys) rs8023524 0.25780
NM_138477.4(CDAN1):c.2408-3C>T rs12905385 0.24113
NM_138477.4(CDAN1):c.3153G>A (p.Glu1051=) rs28661826 0.06415
NM_138477.4(CDAN1):c.3450+11C>T rs56046122 0.06311
NM_138477.4(CDAN1):c.816C>A (p.Thr272=) rs76599133 0.06184
NM_138477.4(CDAN1):c.443C>T (p.Ala148Val) rs73410959 0.06134
NM_138477.4(CDAN1):c.558C>G (p.Pro186=) rs12594325 0.05980
NM_138477.4(CDAN1):c.2174+20G>A rs75993383 0.02307
NM_138477.4(CDAN1):c.1969G>A (p.Gly657Ser) rs61747153 0.02138
NM_138477.4(CDAN1):c.2948-13C>T rs117946783 0.02118
NM_138477.4(CDAN1):c.157C>T (p.Leu53=) rs186189866 0.01218
NM_138477.4(CDAN1):c.1968C>T (p.Thr656=) rs61742992 0.01147
NM_138477.4(CDAN1):c.2445C>T (p.Gly815=) rs114208791 0.01142
NM_138477.4(CDAN1):c.2700G>A (p.Gln900=) rs61745640 0.00622
NM_138477.4(CDAN1):c.906G>A (p.Leu302=) rs61745955 0.00486
NM_138477.4(CDAN1):c.386G>A (p.Arg129His) rs12441516 0.00155
NM_138477.4(CDAN1):c.3524G>A (p.Cys1175Tyr) rs192268080 0.00024
NM_138477.4(CDAN1):c.2750T>G (p.Ile917Ser) rs529452785 0.00002

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