ClinVar Miner

List of variants reported as pathogenic for congenital dyserythropoietic anemia type 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys) rs121918221 0.00024
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp) rs121918222 0.00018
NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter) rs121918226 0.00013
NM_006363.6(SEC23B):c.835-2A>G rs371646735 0.00008
NM_006363.6(SEC23B):c.2101C>T (p.Arg701Cys) rs201270568 0.00005
NM_006363.6(SEC23B):c.1489C>T (p.Arg497Cys) rs727504145 0.00004
NM_006363.6(SEC23B):c.53G>A (p.Arg18His) rs905074313 0.00004
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter) rs121918225 0.00004
NM_006363.6(SEC23B):c.1648C>T (p.Arg550Ter) rs199939108 0.00003
NM_006363.6(SEC23B):c.367C>T (p.Arg123Ter) rs775380378 0.00003
NM_006363.6(SEC23B):c.689+1G>A rs398124226 0.00003
NM_006363.6(SEC23B):c.1603C>T (p.Arg535Ter) rs201921350 0.00002
NM_006363.6(SEC23B):c.790C>T (p.Arg264Ter) rs121918224 0.00002
NM_006363.6(SEC23B):c.1015C>T (p.Arg339Ter) rs368960604 0.00001
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys) rs780978419 0.00001
NM_006363.6(SEC23B):c.1507C>T (p.Arg503Ter) rs1568617456 0.00001
NM_006363.6(SEC23B):c.1571C>T (p.Ala524Val) rs398124225 0.00001
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp) rs121918223 0.00001
NM_006363.6(SEC23B):c.1660C>T (p.Arg554Ter) rs778016282 0.00001
NM_006363.6(SEC23B):c.1989dup (p.Glu664Ter) rs762302707 0.00001
NM_006363.6(SEC23B):c.2150del (p.Ala717fs) rs1334741748 0.00001
NM_006363.6(SEC23B):c.2152C>T (p.Arg718Ter) rs751349881 0.00001
NM_006363.6(SEC23B):c.249G>A (p.Trp83Ter) rs1413836890 0.00001
NC_000020.10:g.(?_17603729)_(18541384_?)del
NC_000020.10:g.(?_18491480)_(18496400_?)del
NC_000020.10:g.(?_18491480)_(18505684_?)del
NC_000020.10:g.(?_18491480)_(18535837_?)del
NC_000020.10:g.(?_18522920)_(18523066_?)del
NC_000020.11:g.(?_18512225)_(18515736_?)del
NC_000020.11:g.18512225_18512228del
NM_006363.6(SEC23B):c.1079del (p.Leu360fs) rs1600244935
NM_006363.6(SEC23B):c.1129_1130del (p.Asp377fs) rs2517482273
NM_006363.6(SEC23B):c.1201C>T (p.Arg401Ter) rs1403456625
NM_006363.6(SEC23B):c.1243del (p.Glu415fs) rs2517485589
NM_006363.6(SEC23B):c.1326_1327del (p.Gly443fs)
NM_006363.6(SEC23B):c.1389_1390del (p.Phe463fs)
NM_006363.6(SEC23B):c.1402C>T (p.Gln468Ter) rs2517489991
NM_006363.6(SEC23B):c.1515_1536dup (p.Arg513fs)
NM_006363.6(SEC23B):c.1660del (p.Arg554fs) rs781770571
NM_006363.6(SEC23B):c.1710dup (p.Arg571Ter) rs771869140
NM_006363.6(SEC23B):c.1733T>C (p.Leu578Pro)
NM_006363.6(SEC23B):c.1741C>T (p.Gln581Ter) rs2517508341
NM_006363.6(SEC23B):c.1831del (p.Arg611fs) rs2517513022
NM_006363.6(SEC23B):c.1887del (p.His631fs) rs1216879587
NM_006363.6(SEC23B):c.1909del (p.Val637fs) rs1349052942
NM_006363.6(SEC23B):c.2074_2077dup (p.Asp693delinsGlyTer)
NM_006363.6(SEC23B):c.2190_2191dup (p.Asn731fs) rs2517523586
NM_006363.6(SEC23B):c.2202T>A (p.Tyr734Ter) rs1600281886
NM_006363.6(SEC23B):c.2212C>T (p.Gln738Ter) rs2517523659
NM_006363.6(SEC23B):c.235C>T (p.Arg79Ter) rs150263014
NM_006363.6(SEC23B):c.279+2T>C
NM_006363.6(SEC23B):c.337del (p.Gln113fs) rs2517457737
NM_006363.6(SEC23B):c.394_397del (p.Leu132fs)
NM_006363.6(SEC23B):c.490del (p.Val164fs) rs776983439
NM_006363.6(SEC23B):c.545del (p.Gly182fs) rs2517470846
NM_006363.6(SEC23B):c.568C>T (p.Arg190Ter) rs541860697
NM_006363.6(SEC23B):c.576_583delinsA (p.Thr192_Lys193insTer) rs1555788144
NM_006363.6(SEC23B):c.584dup (p.Leu195fs) rs1568605364
NM_006363.6(SEC23B):c.592A>T (p.Lys198Ter) rs2517471083
NM_006363.6(SEC23B):c.640C>T (p.Gln214Ter) rs201418257
NM_006363.6(SEC23B):c.689+1G>C rs398124226
NM_006363.6(SEC23B):c.689+1G>T rs398124226
NM_006363.6(SEC23B):c.762G>A (p.Trp254Ter) rs2517473808
NM_006363.6(SEC23B):c.816del (p.Ile272fs) rs1568606490
NM_006363.6(SEC23B):c.873del (p.Phe291fs) rs2517475167
NM_006363.6(SEC23B):c.938G>A (p.Arg313His) rs750888081
NM_006363.6(SEC23B):c.953T>C (p.Ile318Thr) rs953079477
NM_006363.6(SEC23B):c.983dup (p.Ala329fs) rs2517475620

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