ClinVar Miner

List of variants reported as likely benign for Anemia, congenital dyserythropoietic, type 1a by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_138477.4(CDAN1):c.2836C>T (p.Arg946Trp) rs114779238 0.01260
NM_138477.4(CDAN1):c.157C>T (p.Leu53=) rs186189866 0.01218
NM_138477.4(CDAN1):c.3194G>A (p.Arg1065Gln) rs61746356 0.00932
NM_138477.4(CDAN1):c.1368-15G>A rs74586882 0.00523
NM_138477.4(CDAN1):c.2738A>T (p.Gln913Leu) rs76947588 0.00380
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.2263-5G>A rs190802841 0.00311
NM_138477.4(CDAN1):c.3666T>C (p.Thr1222=) rs77191722 0.00309
NM_138477.4(CDAN1):c.1967C>G (p.Thr656Ser) rs139202766 0.00296
NM_138477.4(CDAN1):c.2067G>A (p.Ala689=) rs147161012 0.00288
NM_138477.4(CDAN1):c.3450+17A>G rs141626745 0.00210
NM_138477.4(CDAN1):c.2463G>A (p.Gly821=) rs139809959 0.00204
NM_138477.4(CDAN1):c.2743T>C (p.Leu915=) rs149472555 0.00061
NM_138477.4(CDAN1):c.2869-5C>T rs370304543 0.00024
NM_138477.4(CDAN1):c.2016G>A (p.Pro672=) rs371799686 0.00021
NM_138477.4(CDAN1):c.2007+10C>T rs372645598 0.00010
NM_138477.4(CDAN1):c.114G>A (p.Ala38=) rs560030704 0.00005
NM_138477.4(CDAN1):c.2577G>A (p.Pro859=) rs368274213 0.00004
NM_138477.4(CDAN1):c.3046G>A (p.Ala1016Thr) rs369116219 0.00004
NM_138477.4(CDAN1):c.3261C>G (p.Ser1087=) rs371567068 0.00003
NM_138477.4(CDAN1):c.2750T>G (p.Ile917Ser) rs529452785 0.00002
NM_138477.4(CDAN1):c.2869-4G>A rs749321986 0.00001
NM_138477.4(CDAN1):c.2937C>T (p.Ala979=) rs781767396 0.00001
NM_138477.4(CDAN1):c.1740-20C>T
NM_138477.4(CDAN1):c.1740-6_1740-4del
NM_138477.4(CDAN1):c.2174+11C>T rs749464836
NM_138477.4(CDAN1):c.2229G>C (p.Leu743=)
NM_138477.4(CDAN1):c.2353-18C>A
NM_138477.4(CDAN1):c.3097-26_3097-20del
NM_138477.4(CDAN1):c.3135C>T (p.Asp1045=) rs146289653
NM_138477.4(CDAN1):c.3189G>A (p.Thr1063=)
NM_138477.4(CDAN1):c.375G>A (p.Pro125=)
NM_138477.4(CDAN1):c.639C>G (p.Thr213=)
NM_138477.4(CDAN1):c.804C>A (p.Pro268=)

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