ClinVar Miner

List of variants reported as pathogenic for Congenital dyserythropoietic anemia, type II; Cowden syndrome 7

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Total variants: 52
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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 0.00017
NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter) rs121918226 0.00013
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.970C>T (p.Arg324Ter) rs121918225 0.00004
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.790C>T (p.Arg264Ter) rs121918224 0.00003
NM_006363.6(SEC23B):c.1603C>T (p.Arg535Ter) rs201921350 0.00002
NM_006363.6(SEC23B):c.1648C>T (p.Arg550Ter) rs199939108 0.00002
NM_006363.6(SEC23B):c.1507C>T (p.Arg503Ter) rs1568617456 0.00001
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp) rs121918223 0.00001
NM_006363.6(SEC23B):c.2150del (p.Ala717fs) rs1334741748 0.00001
NC_000020.11:g.(?_18512225)_(18515736_?)del
NC_000020.11:g.18512225_18512228del
NM_006363.6(SEC23B):c.1015C>T (p.Arg339Ter)
NM_006363.6(SEC23B):c.1079del (p.Leu360fs) rs1600244935
NM_006363.6(SEC23B):c.1129_1130del (p.Asp377fs)
NM_006363.6(SEC23B):c.1201C>T (p.Arg401Ter) rs1403456625
NM_006363.6(SEC23B):c.1243del (p.Glu415fs)
NM_006363.6(SEC23B):c.1402C>T (p.Gln468Ter)
NM_006363.6(SEC23B):c.1660C>T (p.Arg554Ter)
NM_006363.6(SEC23B):c.1660del (p.Arg554fs)
NM_006363.6(SEC23B):c.1710dup (p.Arg571Ter)
NM_006363.6(SEC23B):c.1741C>T (p.Gln581Ter)
NM_006363.6(SEC23B):c.1831del (p.Arg611fs)
NM_006363.6(SEC23B):c.1909del (p.Val637fs)
NM_006363.6(SEC23B):c.1989dup (p.Glu664Ter)
NM_006363.6(SEC23B):c.2152C>T (p.Arg718Ter)
NM_006363.6(SEC23B):c.2190_2191dup (p.Asn731fs)
NM_006363.6(SEC23B):c.2202T>A (p.Tyr734Ter)
NM_006363.6(SEC23B):c.2212C>T (p.Gln738Ter)
NM_006363.6(SEC23B):c.235C>T (p.Arg79Ter)
NM_006363.6(SEC23B):c.249G>A (p.Trp83Ter)
NM_006363.6(SEC23B):c.337del (p.Gln113fs)
NM_006363.6(SEC23B):c.490del (p.Val164fs)
NM_006363.6(SEC23B):c.545del (p.Gly182fs)
NM_006363.6(SEC23B):c.568C>T (p.Arg190Ter)
NM_006363.6(SEC23B):c.576_583delinsA (p.Thr192_Lys193insTer) rs1555788144
NM_006363.6(SEC23B):c.584dup (p.Leu195fs)
NM_006363.6(SEC23B):c.592A>T (p.Lys198Ter)
NM_006363.6(SEC23B):c.640C>T (p.Gln214Ter)
NM_006363.6(SEC23B):c.689+1G>C
NM_006363.6(SEC23B):c.689+1G>T
NM_006363.6(SEC23B):c.762G>A (p.Trp254Ter)
NM_006363.6(SEC23B):c.816del (p.Ile272fs) rs1568606490
NM_006363.6(SEC23B):c.835-2A>G
NM_006363.6(SEC23B):c.873del (p.Phe291fs)
NM_006363.6(SEC23B):c.938G>A (p.Arg313His)
NM_006363.6(SEC23B):c.953T>C (p.Ile318Thr)
NM_006363.6(SEC23B):c.983dup (p.Ala329fs)

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