ClinVar Miner

List of variants reported as uncertain significance for congenital dyserythropoietic anemia type 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 201
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HGVS dbSNP gnomAD frequency
NM_138477.4(CDAN1):c.-14G>A rs190314153 0.00804
NM_138477.4(CDAN1):c.2542-4C>G rs147426809 0.00225
NM_138477.4(CDAN1):c.*722G>A rs528323093 0.00145
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.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.3556G>A (p.Gly1186Arg) rs371901013 0.00033
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.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_138477.4(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.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.1766A>G (p.Asp589Gly) rs148074362 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.2008-15C>T rs774076440 0.00006
NM_138477.4(CDAN1):c.3316G>A (p.Glu1106Lys) rs551196529 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.*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.3383C>T (p.Pro1128Leu) rs752497862 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.1826A>G (p.Asn609Ser) rs770414676 0.00003
NM_138477.4(CDAN1):c.2263-8C>T rs757508400 0.00003
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_001321759.2(CDIN1):c.707A>G (p.Tyr236Cys) rs768744226 0.00002
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.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.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.1273C>G (p.Pro425Ala) rs191247450 0.00001
NM_138477.4(CDAN1):c.1583C>T (p.Pro528Leu) rs755117251 0.00001
NM_138477.4(CDAN1):c.2073C>T (p.Leu691=) rs199776068 0.00001
NM_138477.4(CDAN1):c.2174G>A (p.Arg725Gln) rs962870388 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_001321759.2(CDIN1):c.298G>T (p.Ala100Ser)
NM_001321759.2(CDIN1):c.59C>G (p.Pro20Arg) rs1595696464
NM_001321759.2(CDIN1):c.620G>A (p.Gly207Glu)
NM_001321759.2(CDIN1):c.812C>A (p.Thr271Lys)
NM_001321759.2(CDIN1):c.98C>T (p.Pro33Leu)
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.1138G>C (p.Val380Leu)
NM_138477.4(CDAN1):c.1180G>A (p.Glu394Lys)
NM_138477.4(CDAN1):c.1322C>T (p.Ala441Val) rs886051158
NM_138477.4(CDAN1):c.1340G>A (p.Arg447Gln)
NM_138477.4(CDAN1):c.134T>C (p.Leu45Pro)
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.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.1715G>C (p.Arg572Thr)
NM_138477.4(CDAN1):c.1740-10T>A rs886051157
NM_138477.4(CDAN1):c.1763T>C (p.Met588Thr)
NM_138477.4(CDAN1):c.1775G>A (p.Ser592Asn)
NM_138477.4(CDAN1):c.1790A>G (p.Glu597Gly) rs778169314
NM_138477.4(CDAN1):c.1819G>A (p.Glu607Lys)
NM_138477.4(CDAN1):c.187C>T (p.Arg63Cys) rs775619948
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.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.2080C>T (p.Pro694Ser) rs2061599288
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.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.2357A>G (p.Asn786Ser)
NM_138477.4(CDAN1):c.2428G>A (p.Ala810Thr)
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.2542-3C>G rs201401533
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.2585T>C (p.Leu862Ser)
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.2605G>A (p.Val869Met) rs370895637
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.274G>C (p.Gly92Arg) rs1051388342
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.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.3106T>C (p.Ser1036Pro)
NM_138477.4(CDAN1):c.3119G>A (p.Gly1040Glu)
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.313G>A (p.Glu105Lys)
NM_138477.4(CDAN1):c.3199C>T (p.Arg1067Cys)
NM_138477.4(CDAN1):c.3205-5C>A rs772939236
NM_138477.4(CDAN1):c.3299C>T (p.Pro1100Leu)
NM_138477.4(CDAN1):c.333C>T (p.Ala111=) rs1320661924
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.463G>A (p.Gly155Ser)
NM_138477.4(CDAN1):c.494C>T (p.Thr165Met)
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.688G>A (p.Ala230Thr)
NM_138477.4(CDAN1):c.774-3T>C rs756901380
NM_138477.4(CDAN1):c.779A>G (p.Lys260Arg)
NM_138477.4(CDAN1):c.77C>T (p.Thr26Ile)
NM_138477.4(CDAN1):c.791A>C (p.Gln264Pro)
NM_138477.4(CDAN1):c.803C>G (p.Pro268Arg)
NM_138477.4(CDAN1):c.844C>T (p.Arg282Trp)
NM_138477.4(CDAN1):c.848C>G (p.Thr283Arg) rs1168958842
NM_138477.4(CDAN1):c.88G>C (p.Glu30Gln)
NM_138477.4(CDAN1):c.890C>A (p.Ser297Tyr)

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