ClinVar Miner

List of variants studied for Congenital dyserythropoietic anemia, type I

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Total variants: 156
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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.*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.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.-14G>A rs190314153 0.00804
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.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 0.00288
NM_138477.4(CDAN1):c.1524A>G (p.Gln508=) rs147500837 0.00283
NM_138477.4(CDAN1):c.2542-4C>G rs147426809 0.00225
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.*722G>A rs528323093 0.00145
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.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.2868C>T (p.Ala956=) rs150438471 0.00046
NM_138477.4(CDAN1):c.1368-6C>T rs200290322 0.00045
NM_138477.4(CDAN1):c.2805-11T>A rs200767055 0.00044
NM_138477.4(CDAN1):c.2776G>A (p.Gly926Arg) rs200401359 0.00039
NM_138477.4(CDAN1):c.2360C>T (p.Ala787Val) rs138839403 0.00035
NM_138477.4(CDAN1):c.*223G>C rs568387944 0.00031
NM_138477.4(CDAN1):c.3204+5G>A rs201125492 0.00030
NM_138477.4(CDAN1):c.57G>C (p.Val19=) rs150418267 0.00029
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.1058-11T>G rs372671684 0.00023
NM_138477.4(CDAN1):c.188G>A (p.Arg63His) rs772157159 0.00023
NM_138477.4(CDAN1):c.2088G>A (p.Leu696=) rs148759214 0.00023
NM_138477.4(CDAN1):c.2837G>A (p.Arg946Gln) rs142833783 0.00023
NM_138477.4(CDAN1):c.2008-8C>T rs201733620 0.00022
NM_138477.4(CDAN1):c.256C>T (p.Pro86Ser) rs543791953 0.00022
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.-8C>T rs764807565 0.00012
NM_138477.4(CDAN1):c.1822C>T (p.Pro608Ser) rs146810840 0.00012
NM_138477.4(CDAN1):c.2801G>A (p.Arg934Gln) rs199753863 0.00012
NM_138477.4(CDAN1):c.3267C>T (p.Leu1089=) rs778218831 0.00012
NM_138477.4(CDAN1):c.1066G>A (p.Glu356Lys) rs185031946 0.00011
NM_138477.4(CDAN1):c.2947+9C>A rs372998688 0.00011
NM_138477.4(CDAN1):c.29G>A (p.Arg10Gln) rs910234195 0.00011
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.2541+14G>A rs199780617 0.00010
NM_138477.4(CDAN1):c.3169C>T (p.Leu1057=) rs61746359 0.00010
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu) rs80338694 0.00009
NM_138477.4(CDAN1):c.1766A>G (p.Asp589Gly) rs148074362 0.00009
NM_138477.4(CDAN1):c.2140C>T (p.Arg714Trp) rs80338696 0.00008
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.2008-15C>T rs774076440 0.00006
NM_138477.4(CDAN1):c.2263-8C>T rs757508400 0.00006
NM_138477.4(CDAN1):c.1839G>A (p.Gly613=) rs148994527 0.00005
NM_138477.4(CDAN1):c.2406C>T (p.Ile802=) rs145050561 0.00005
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu) rs80338699 0.00005
NM_138477.4(CDAN1):c.*349A>G rs886051156 0.00004
NM_138477.4(CDAN1):c.2361G>A (p.Ala787=) rs377342875 0.00004
NM_138477.4(CDAN1):c.3217C>T (p.Pro1073Ser) rs776881666 0.00004
NM_138477.4(CDAN1):c.324C>T (p.Ser108=) rs945794101 0.00004
NM_138477.4(CDAN1):c.3559-10T>C rs543020087 0.00004
NM_138477.4(CDAN1):c.527A>T (p.Glu176Val) rs373153188 0.00004
NM_138477.4(CDAN1):c.2516C>T (p.Pro839Leu) rs772668700 0.00003
NM_138477.4(CDAN1):c.3128A>T (p.Asp1043Val) rs80338698 0.00003
NM_138477.4(CDAN1):c.3142G>A (p.Val1048Ile) rs745816995 0.00003
NM_138477.4(CDAN1):c.3384G>A (p.Pro1128=) rs141832648 0.00003
NM_138477.4(CDAN1):c.943+4A>T rs771288663 0.00003
NM_138477.4(CDAN1):c.1004G>A (p.Arg335Gln) rs766537047 0.00002
NM_138477.4(CDAN1):c.2007+11G>A rs758515470 0.00002
NM_138477.4(CDAN1):c.2750T>G (p.Ile917Ser) rs529452785 0.00002
NM_138477.4(CDAN1):c.3019C>T (p.Arg1007Trp) rs142276684 0.00002
NM_138477.4(CDAN1):c.3200G>A (p.Arg1067His) rs146049960 0.00002
NM_138477.4(CDAN1):c.3590A>T (p.Asn1197Ile) rs771780683 0.00002
NM_138477.4(CDAN1):c.701G>A (p.Ser234Asn) rs755238710 0.00002
NM_138477.4(CDAN1):c.845G>A (p.Arg282Gln) rs777323929 0.00002
NM_138477.4(CDAN1):c.*58G>A rs567117839 0.00001
NM_138477.4(CDAN1):c.*753C>T rs1011188304 0.00001
NM_138477.4(CDAN1):c.-4C>G rs776319103 0.00001
NM_138477.4(CDAN1):c.1203C>T (p.Phe401=) rs2061657466 0.00001
NM_138477.4(CDAN1):c.1242G>C (p.Glu414Asp) rs1470472984 0.00001
NM_138477.4(CDAN1):c.1583C>T (p.Pro528Leu) rs755117251 0.00001
NM_138477.4(CDAN1):c.1796A>G (p.Asn599Ser) rs120074166 0.00001
NM_138477.4(CDAN1):c.2073C>T (p.Leu691=) rs199776068 0.00001
NM_138477.4(CDAN1):c.2262+10G>A rs1338899431 0.00001
NM_138477.4(CDAN1):c.2539C>T (p.Gln847Ter) rs144546360 0.00001
NM_138477.4(CDAN1):c.2576C>T (p.Pro859Leu) rs370476233 0.00001
NM_138477.4(CDAN1):c.2587C>T (p.Arg863Cys) rs768892869 0.00001
NM_138477.4(CDAN1):c.2725G>A (p.Gly909Arg) rs745824109 0.00001
NM_138477.4(CDAN1):c.2872C>T (p.Leu958=) rs764432820 0.00001
NM_138477.4(CDAN1):c.3268G>C (p.Val1090Leu) rs559053820 0.00001
NM_138477.4(CDAN1):c.3559-11A>G rs375128684 0.00001
NM_138477.4(CDAN1):c.3648G>A (p.Val1216=) rs138934554 0.00001
NM_138477.4(CDAN1):c.392G>A (p.Arg131His) rs1165157914 0.00001
NM_138477.4(CDAN1):c.569+9C>G rs778283367 0.00001
NM_138477.4(CDAN1):c.*174G>C rs2061494783
NM_138477.4(CDAN1):c.*539C>T rs1314999197
NM_138477.4(CDAN1):c.*600A>G rs886051155
NM_138477.4(CDAN1):c.*641G>T rs2061489811
NM_138477.4(CDAN1):c.*657A>G rs752891192
NM_138477.4(CDAN1):c.*680C>G rs965392126
NM_138477.4(CDAN1):c.*687G>C rs1245688161
NM_138477.4(CDAN1):c.*731C>A rs2061488733
NM_138477.4(CDAN1):c.*788G>T rs886051154
NM_138477.4(CDAN1):c.*827A>G rs573659922
NM_138477.4(CDAN1):c.*896T>C rs2061486806
NM_138477.4(CDAN1):c.*94T>C rs2061495632
NM_138477.4(CDAN1):c.1117_1119del (p.Val373del) rs120074169
NM_138477.4(CDAN1):c.1322C>T (p.Ala441Val) rs886051158
NM_138477.4(CDAN1):c.152C>T (p.Pro51Leu)
NM_138477.4(CDAN1):c.1740-10T>A rs886051157
NM_138477.4(CDAN1):c.1790A>G (p.Glu597Gly) rs778169314
NM_138477.4(CDAN1):c.1915T>C (p.Phe639Leu) rs2061603986
NM_138477.4(CDAN1):c.201G>T (p.Gln67His) rs2061692835
NM_138477.4(CDAN1):c.2066C>A (p.Ala689Glu) rs140334403
NM_138477.4(CDAN1):c.2080C>T (p.Pro694Ser) rs2061599288
NM_138477.4(CDAN1):c.2173C>T (p.Arg725Trp) rs138334226
NM_138477.4(CDAN1):c.2174+11C>T rs749464836
NM_138477.4(CDAN1):c.2428G>C (p.Ala810Pro) rs747975571
NM_138477.4(CDAN1):c.2439G>A (p.Val813=) rs2061577795
NM_138477.4(CDAN1):c.2464G>A (p.Gly822Ser) rs1193351243
NM_138477.4(CDAN1):c.255G>A (p.Arg85=) rs886051159
NM_138477.4(CDAN1):c.257C>T (p.Pro86Leu) rs1442095399
NM_138477.4(CDAN1):c.2590C>T (p.Arg864Trp) rs746216798
NM_138477.4(CDAN1):c.2592_2596dup (p.Val866fs) rs1296421769
NM_138477.4(CDAN1):c.2602T>A (p.Phe868Ile) rs120074168
NM_138477.4(CDAN1):c.2605G>A (p.Val869Met) rs370895637
NM_138477.4(CDAN1):c.274G>C (p.Gly92Arg) rs1051388342
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.3205-5C>A rs772939236
NM_138477.4(CDAN1):c.333C>T (p.Ala111=) rs1320661924
NM_138477.4(CDAN1):c.773+14G>A rs543228844
NM_138477.4(CDAN1):c.774-3T>C rs756901380

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