ClinVar Miner

List of variants reported as uncertain significance for congenital dyserythropoietic anemia by Invitae

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 58
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006363.6(SEC23B):c.1665+6T>C rs371786580 0.00046
NM_006363.6(SEC23B):c.1233+4C>T rs201883785 0.00040
NM_006363.6(SEC23B):c.569G>A (p.Arg190Gln) rs201160833 0.00028
NM_006363.6(SEC23B):c.1636C>T (p.Arg546Trp) rs147135162 0.00007
NM_006363.6(SEC23B):c.82C>T (p.Arg28Trp) rs759146033 0.00005
NM_006363.6(SEC23B):c.53G>A (p.Arg18His) rs905074313 0.00004
NM_006363.6(SEC23B):c.916G>A (p.Asp306Asn) rs763130110 0.00004
NM_006363.6(SEC23B):c.2126A>G (p.Asn709Ser) rs778348206 0.00003
NM_006363.6(SEC23B):c.2008C>T (p.Arg670Cys) rs752037101 0.00002
NM_006363.6(SEC23B):c.2009G>A (p.Arg670His) rs757662443 0.00002
NM_006363.6(SEC23B):c.2129C>T (p.Thr710Met) rs752664090 0.00002
NM_006363.6(SEC23B):c.1400A>G (p.Asn467Ser) rs150210442 0.00001
NM_006363.6(SEC23B):c.1475C>T (p.Thr492Ile) rs757801115 0.00001
NM_006363.6(SEC23B):c.1483C>T (p.Arg495Cys) rs768018657 0.00001
NM_006363.6(SEC23B):c.1486A>G (p.Ile496Val) rs755836066 0.00001
NM_006363.6(SEC23B):c.221+3A>G rs777858803 0.00001
NM_006363.6(SEC23B):c.301A>G (p.Ile101Val) rs754320262 0.00001
NM_006363.6(SEC23B):c.890C>T (p.Thr297Ile) rs1363436677 0.00001
NC_000020.10:g.(?_18449649)_(18541384_?)dup
NC_000020.10:g.(?_18516277)_(18516406_?)del
NM_006363.6(SEC23B):c.1027A>G (p.Asn343Asp)
NM_006363.6(SEC23B):c.1043A>G (p.Asp348Gly) rs2060144762
NM_006363.6(SEC23B):c.1054T>C (p.Cys352Arg)
NM_006363.6(SEC23B):c.1115A>G (p.Tyr372Cys)
NM_006363.6(SEC23B):c.1115A>T (p.Tyr372Phe)
NM_006363.6(SEC23B):c.1217C>T (p.Ala406Val)
NM_006363.6(SEC23B):c.1244A>G (p.Glu415Gly)
NM_006363.6(SEC23B):c.1415C>T (p.Pro472Leu) rs752548887
NM_006363.6(SEC23B):c.146C>T (p.Pro49Leu)
NM_006363.6(SEC23B):c.1490G>T (p.Arg497Leu)
NM_006363.6(SEC23B):c.1504G>A (p.Ala502Thr)
NM_006363.6(SEC23B):c.1555T>C (p.Phe519Leu)
NM_006363.6(SEC23B):c.1580T>C (p.Leu527Ser)
NM_006363.6(SEC23B):c.1637G>T (p.Arg546Leu)
NM_006363.6(SEC23B):c.164A>C (p.Gln55Pro)
NM_006363.6(SEC23B):c.1665+4A>G
NM_006363.6(SEC23B):c.1666-3T>C
NM_006363.6(SEC23B):c.1857C>G (p.Ile619Met)
NM_006363.6(SEC23B):c.2011A>G (p.Lys671Glu)
NM_006363.6(SEC23B):c.208C>T (p.Leu70Phe)
NM_006363.6(SEC23B):c.211A>C (p.Asn71His) rs2059977897
NM_006363.6(SEC23B):c.2242G>A (p.Asp748Asn) rs2122200225
NM_006363.6(SEC23B):c.2242G>C (p.Asp748His)
NM_006363.6(SEC23B):c.2294G>C (p.Ser765Thr)
NM_006363.6(SEC23B):c.251C>T (p.Ala84Val)
NM_006363.6(SEC23B):c.338A>C (p.Gln113Pro)
NM_006363.6(SEC23B):c.501C>G (p.Ile167Met)
NM_006363.6(SEC23B):c.546A>T (p.Gly182=) rs1347919581
NM_006363.6(SEC23B):c.5C>T (p.Ala2Val)
NM_006363.6(SEC23B):c.614G>C (p.Gly205Ala)
NM_006363.6(SEC23B):c.631A>G (p.Met211Val)
NM_006363.6(SEC23B):c.708C>A (p.His236Gln) rs748683327
NM_006363.6(SEC23B):c.712A>G (p.Ile238Val)
NM_006363.6(SEC23B):c.716A>G (p.Asp239Gly) rs761034212
NM_006363.6(SEC23B):c.757C>T (p.Pro253Ser)
NM_006363.6(SEC23B):c.820G>A (p.Val274Ile) rs747388303
NM_006363.6(SEC23B):c.853G>A (p.Gly285Arg)
NM_006363.6(SEC23B):c.985G>C (p.Ala329Pro)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.