ClinVar Miner

List of variants studied for anemia, congenital dyserythropoietic, type 1a by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (1):
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Total variants: 82
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HGVS dbSNP gnomAD frequency
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.1787A>G (p.Gln596Arg) rs12917189 0.40225
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.2836C>T (p.Arg946Trp) rs114779238 0.01260
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.3194G>A (p.Arg1065Gln) rs61746356 0.00932
NM_138477.4(CDAN1):c.2700G>A (p.Gln900=) rs61745640 0.00622
NM_138477.4(CDAN1):c.1368-15G>A rs74586882 0.00523
NM_138477.4(CDAN1):c.906G>A (p.Leu302=) rs61745955 0.00486
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.386G>A (p.Arg129His) rs12441516 0.00155
NM_138477.4(CDAN1):c.2735C>T (p.Ala912Val) rs143086237 0.00130
NM_138477.4(CDAN1):c.2164C>T (p.Arg722Cys) rs140014115 0.00123
NM_138477.4(CDAN1):c.2662G>C (p.Asp888His) rs150657573 0.00076
NM_138477.4(CDAN1):c.2743T>C (p.Leu915=) rs149472555 0.00061
NM_138477.4(CDAN1):c.1649T>C (p.Met550Thr) rs201599639 0.00055
NM_138477.4(CDAN1):c.1705G>C (p.Gly569Arg) rs201079951 0.00055
NM_138477.4(CDAN1):c.1860+5G>A rs113313967 0.00051
NM_138477.4(CDAN1):c.2360C>T (p.Ala787Val) rs138839403 0.00035
NM_138477.4(CDAN1):c.3556G>A (p.Gly1186Arg) rs371901013 0.00033
NM_138477.4(CDAN1):c.3204+5G>A rs201125492 0.00030
NM_138477.4(CDAN1):c.2869-5C>T rs370304543 0.00024
NM_138477.4(CDAN1):c.188G>A (p.Arg63His) rs772157159 0.00023
NM_138477.4(CDAN1):c.2016G>A (p.Pro672=) rs371799686 0.00021
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu) rs120074167 0.00013
NM_138477.4(CDAN1):c.2007+10C>T rs372645598 0.00010
NM_138477.4(CDAN1):c.3316G>A (p.Glu1106Lys) rs551196529 0.00006
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.1826A>G (p.Asn609Ser) rs770414676 0.00003
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.1384G>A (p.Val462Met)
NM_138477.4(CDAN1):c.1507C>T (p.Arg503Trp) rs748862062
NM_138477.4(CDAN1):c.1596dup (p.Met533fs) rs778822407
NM_138477.4(CDAN1):c.169del (p.Phe56_Leu57insTer)
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.2186T>C (p.Leu729Ser)
NM_138477.4(CDAN1):c.2229G>C (p.Leu743=)
NM_138477.4(CDAN1):c.2353-18C>A
NM_138477.4(CDAN1):c.2650A>C (p.Thr884Pro)
NM_138477.4(CDAN1):c.278_279delinsAT (p.Ser93Asn) rs2140513573
NM_138477.4(CDAN1):c.2804A>G (p.Glu935Gly)
NM_138477.4(CDAN1):c.2833G>T (p.Val945Leu) rs756449578
NM_138477.4(CDAN1):c.3097-26_3097-20del
NM_138477.4(CDAN1):c.3135C>T (p.Asp1045=) rs146289653
NM_138477.4(CDAN1):c.313G>A (p.Glu105Lys)
NM_138477.4(CDAN1):c.3189G>A (p.Thr1063=)
NM_138477.4(CDAN1):c.3299C>T (p.Pro1100Leu)
NM_138477.4(CDAN1):c.375G>A (p.Pro125=)
NM_138477.4(CDAN1):c.559G>A (p.Gly187Ser)
NM_138477.4(CDAN1):c.639C>G (p.Thr213=)
NM_138477.4(CDAN1):c.688G>A (p.Ala230Thr)
NM_138477.4(CDAN1):c.804C>A (p.Pro268=)
NM_138477.4(CDAN1):c.848C>G (p.Thr283Arg) rs1168958842

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