ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_138477.4(CDAN1):c.2836C>T (p.Arg946Trp) rs114779238 0.01174
NM_138477.4(CDAN1):c.3194G>A (p.Arg1065Gln) rs61746356 0.00932
NM_138477.4(CDAN1):c.1368-15G>A rs74586882 0.00517
NM_138477.4(CDAN1):c.2738A>T (p.Gln913Leu) rs76947588 0.00352
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.1967C>G (p.Thr656Ser) rs139202766 0.00296
NM_138477.4(CDAN1):c.2067G>A (p.Ala689=) rs147161012 0.00273
NM_138477.4(CDAN1):c.2463G>A (p.Gly821=) rs139809959 0.00200
NM_138477.4(CDAN1):c.3450+17A>G rs141626745 0.00198
NM_138477.4(CDAN1):c.639C>G (p.Thr213=) rs143391538 0.00101
NM_138477.4(CDAN1):c.2743T>C (p.Leu915=) rs149472555 0.00061
NM_138477.4(CDAN1):c.1368-6C>T rs200290322 0.00045
NM_138477.4(CDAN1):c.3189G>A (p.Thr1063=) rs140304348 0.00030
NM_138477.4(CDAN1):c.3524G>A (p.Cys1175Tyr) rs192268080 0.00030
NM_138477.4(CDAN1):c.2869-5C>T rs370304543 0.00024
NM_138477.4(CDAN1):c.2088G>A (p.Leu696=) rs148759214 0.00023
NM_138477.4(CDAN1):c.2008-8C>T rs201733620 0.00022
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 0.00009
NM_138477.4(CDAN1):c.3097-26_3097-20del rs775710942 0.00005
NM_138477.4(CDAN1):c.548C>T (p.Ser183Leu) rs370757859 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.2804+10G>A rs765733042 0.00003
NM_138477.4(CDAN1):c.3261C>G (p.Ser1087=) rs371567068 0.00003
NM_138477.4(CDAN1):c.375G>A (p.Pro125=) rs1448409048 0.00003
NM_138477.4(CDAN1):c.2750T>G (p.Ile917Ser) rs529452785 0.00002
NM_138477.4(CDAN1):c.2229G>C (p.Leu743=) rs200409387 0.00001
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 rs2506106342
NM_138477.4(CDAN1):c.1740-6_1740-4del rs755830767
NM_138477.4(CDAN1):c.1860+15_1860+17del rs773933521
NM_138477.4(CDAN1):c.2174+11C>T rs749464836
NM_138477.4(CDAN1):c.2353-18C>A rs778999414
NM_138477.4(CDAN1):c.2541+12G>A
NM_138477.4(CDAN1):c.3135C>T (p.Asp1045=) rs146289653
NM_138477.4(CDAN1):c.3450+7C>T
NM_138477.4(CDAN1):c.804C>A (p.Pro268=) rs191624595

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