ClinVar Miner

List of variants in gene CDAN1 studied for anemia, congenital dyserythropoietic, type 1a

Included ClinVar conditions (1):
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Total variants: 161
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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.1787A>G (p.Gln596Arg) rs12917189 0.40225
NM_138477.4(CDAN1):c.2352+8C>T rs12594483 0.34139
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.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.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.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.982G>A (p.Val328Ile) rs144448301 0.00050
NM_138477.4(CDAN1):c.3188C>T (p.Thr1063Met) rs143857276 0.00048
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.2059C>T (p.Arg687Cys) rs181448047 0.00024
NM_138477.4(CDAN1):c.2869-5C>T rs370304543 0.00024
NM_138477.4(CDAN1):c.3524G>A (p.Cys1175Tyr) rs192268080 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.1822C>T (p.Pro608Ser) rs146810840 0.00012
NM_138477.4(CDAN1):c.2007+10C>T rs372645598 0.00010
NM_138477.4(CDAN1):c.2197A>C (p.Ser733Arg) rs150491625 0.00010
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu) rs80338694 0.00009
NM_138477.4(CDAN1):c.2984G>A (p.Arg995His) rs369919247 0.00007
NM_138477.4(CDAN1):c.1964C>T (p.Pro655Leu) rs368192130 0.00006
NM_138477.4(CDAN1):c.3316G>A (p.Glu1106Lys) rs551196529 0.00006
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu) rs80338699 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.3217C>T (p.Pro1073Ser) rs776881666 0.00004
NM_138477.4(CDAN1):c.3383C>T (p.Pro1128Leu) rs752497862 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.2800C>T (p.Arg934Trp) rs751799284 0.00002
NM_138477.4(CDAN1):c.3019C>T (p.Arg1007Trp) rs142276684 0.00002
NM_138477.4(CDAN1):c.3043C>T (p.Arg1015Cys) rs764025922 0.00002
NM_138477.4(CDAN1):c.845G>A (p.Arg282Gln) rs777323929 0.00002
NM_138477.4(CDAN1):c.1273C>G (p.Pro425Ala) rs191247450 0.00001
NM_138477.4(CDAN1):c.2174G>A (p.Arg725Gln) rs962870388 0.00001
NM_138477.4(CDAN1):c.2576C>T (p.Pro859Leu) rs370476233 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.1055_1056del (p.Leu352fs) rs2140505826
NM_138477.4(CDAN1):c.1138G>C (p.Val380Leu)
NM_138477.4(CDAN1):c.1180G>A (p.Glu394Lys)
NM_138477.4(CDAN1):c.1239T>A (p.Tyr413Ter) rs1336651679
NM_138477.4(CDAN1):c.1340G>A (p.Arg447Gln)
NM_138477.4(CDAN1):c.1384G>A (p.Val462Met)
NM_138477.4(CDAN1):c.1448G>A (p.Ser483Asn)
NM_138477.4(CDAN1):c.1507C>T (p.Arg503Trp) rs748862062
NM_138477.4(CDAN1):c.1587T>G (p.Asp529Glu)
NM_138477.4(CDAN1):c.1596dup (p.Met533fs) rs778822407
NM_138477.4(CDAN1):c.1606G>C (p.Ala536Pro)
NM_138477.4(CDAN1):c.1663A>G (p.Ser555Gly)
NM_138477.4(CDAN1):c.1681C>T (p.Pro561Ser)
NM_138477.4(CDAN1):c.169del (p.Phe56_Leu57insTer)
NM_138477.4(CDAN1):c.1715G>C (p.Arg572Thr)
NM_138477.4(CDAN1):c.1740-20C>T
NM_138477.4(CDAN1):c.1740-6_1740-4del
NM_138477.4(CDAN1):c.1763T>C (p.Met588Thr)
NM_138477.4(CDAN1):c.1775G>A (p.Ser592Asn)
NM_138477.4(CDAN1):c.1819G>A (p.Glu607Lys)
NM_138477.4(CDAN1):c.187C>T (p.Arg63Cys) rs775619948
NM_138477.4(CDAN1):c.2029C>T (p.Arg677Trp)
NM_138477.4(CDAN1):c.2045G>A (p.Arg682Gln)
NM_138477.4(CDAN1):c.2052G>A (p.Leu684=)
NM_138477.4(CDAN1):c.2060G>A (p.Arg687His)
NM_138477.4(CDAN1):c.2062C>T (p.Arg688Trp)
NM_138477.4(CDAN1):c.2087T>A (p.Leu696Gln)
NM_138477.4(CDAN1):c.2110G>A (p.Asp704Asn)
NM_138477.4(CDAN1):c.2174+11C>T rs749464836
NM_138477.4(CDAN1):c.2185T>G (p.Leu729Val)
NM_138477.4(CDAN1):c.2186T>C (p.Leu729Ser)
NM_138477.4(CDAN1):c.2194G>A (p.Glu732Lys)
NM_138477.4(CDAN1):c.2229G>C (p.Leu743=)
NM_138477.4(CDAN1):c.222G>T (p.Lys74Asn)
NM_138477.4(CDAN1):c.226C>G (p.Pro76Ala)
NM_138477.4(CDAN1):c.2285T>C (p.Leu762Ser)
NM_138477.4(CDAN1):c.2353-18C>A
NM_138477.4(CDAN1):c.2357A>G (p.Asn786Ser)
NM_138477.4(CDAN1):c.2403dup (p.Ile802fs)
NM_138477.4(CDAN1):c.2428G>A (p.Ala810Thr)
NM_138477.4(CDAN1):c.2542-3C>G rs201401533
NM_138477.4(CDAN1):c.2585T>C (p.Leu862Ser)
NM_138477.4(CDAN1):c.2645+2dup
NM_138477.4(CDAN1):c.2650A>C (p.Thr884Pro)
NM_138477.4(CDAN1):c.2660C>T (p.Ala887Val)
NM_138477.4(CDAN1):c.2672G>A (p.Arg891His)
NM_138477.4(CDAN1):c.2804A>G (p.Glu935Gly)
NM_138477.4(CDAN1):c.2833G>T (p.Val945Leu) rs756449578
NM_138477.4(CDAN1):c.2852_2853del (p.Glu951fs) rs2140471687
NM_138477.4(CDAN1):c.2861C>T (p.Pro954Leu)
NM_138477.4(CDAN1):c.2868+4C>T rs749746339
NM_138477.4(CDAN1):c.2887A>G (p.Asn963Asp)
NM_138477.4(CDAN1):c.2893G>T (p.Ala965Ser)
NM_138477.4(CDAN1):c.2939A>G (p.Asn980Ser)
NM_138477.4(CDAN1):c.2947G>C (p.Ala983Pro)
NM_138477.4(CDAN1):c.2975C>T (p.Ala992Val)
NM_138477.4(CDAN1):c.2984G>T (p.Arg995Leu)
NM_138477.4(CDAN1):c.2995G>A (p.Ala999Thr)
NM_138477.4(CDAN1):c.3026A>G (p.Glu1009Gly)
NM_138477.4(CDAN1):c.3028C>G (p.Arg1010Gly)
NM_138477.4(CDAN1):c.3097-26_3097-20del
NM_138477.4(CDAN1):c.3106T>C (p.Ser1036Pro)
NM_138477.4(CDAN1):c.3119G>A (p.Gly1040Glu)
NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp) rs80338697
NM_138477.4(CDAN1):c.3135C>A (p.Asp1045Glu) rs146289653
NM_138477.4(CDAN1):c.3135C>T (p.Asp1045=) rs146289653
NM_138477.4(CDAN1):c.3136G>A (p.Glu1046Lys)
NM_138477.4(CDAN1):c.3189G>A (p.Thr1063=)
NM_138477.4(CDAN1):c.3199C>T (p.Arg1067Cys)
NM_138477.4(CDAN1):c.3290dup (p.Gly1098fs)
NM_138477.4(CDAN1):c.3299C>T (p.Pro1100Leu)
NM_138477.4(CDAN1):c.3416A>C (p.Asn1139Thr)
NM_138477.4(CDAN1):c.3476G>A (p.Arg1159Gln)
NM_138477.4(CDAN1):c.3597T>G (p.Phe1199Leu)
NM_138477.4(CDAN1):c.3604G>A (p.Glu1202Lys)
NM_138477.4(CDAN1):c.3658C>T (p.Arg1220Trp)
NM_138477.4(CDAN1):c.548C>T (p.Ser183Leu)
NM_138477.4(CDAN1):c.557C>G (p.Pro186Arg)
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.779A>G (p.Lys260Arg)
NM_138477.4(CDAN1):c.77C>T (p.Thr26Ile)
NM_138477.4(CDAN1):c.788del (p.Gln263fs)
NM_138477.4(CDAN1):c.791A>C (p.Gln264Pro)
NM_138477.4(CDAN1):c.803C>G (p.Pro268Arg)
NM_138477.4(CDAN1):c.804C>A (p.Pro268=)
NM_138477.4(CDAN1):c.844C>T (p.Arg282Trp)
NM_138477.4(CDAN1):c.848C>G (p.Thr283Arg) rs1168958842
NM_138477.4(CDAN1):c.885_886del (p.Arg295fs)
NM_138477.4(CDAN1):c.88G>C (p.Glu30Gln)
NM_138477.4(CDAN1):c.890C>A (p.Ser297Tyr)

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