ClinVar Miner

List of variants studied for anemia (disease) by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

Included ClinVar conditions (258):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_000253.3(MTTP):c.1016C>A (p.Ala339Glu) rs137956833
NM_000253.3(MTTP):c.1770-10T>C rs1194740423
NM_000253.3(MTTP):c.2433G>C (p.Leu811Phe) rs144590904
NM_000253.3(MTTP):c.2657C>T (p.Pro886Leu) rs144600401
NM_000253.3(MTTP):c.552A>T (p.Lys184Asn) rs144315111
NM_001081.3(CUBN):c.10471A>G (p.Ser3491Gly) rs1183879233
NM_001184726.1(TCN2):c.280G>A (p.Gly94Ser) rs11557600
NM_001286167.2(FANCA):c.1573A>G (p.Ile525Val) rs755925068
NM_001286167.2(FANCA):c.3859G>A (p.Val1287Ile) rs17227354
NM_002389.4(CD46):c.417A>G (p.Leu139=) rs12126088
NM_014646.2(LPIN2):c.1169-7delT rs746626720
NM_014646.2(LPIN2):c.1735T>C (p.Ser579Pro) rs150022314
NM_014646.2(LPIN2):c.206T>C (p.Ile69Thr) rs1555677681
NM_014646.2(LPIN2):c.2671G>A (p.Asp891Asn) rs200648652
NM_016038.2(SBDS):c.258+2T>C rs113993993
NM_080669.5(SLC46A1):c.294C>A (p.Leu98=) rs371270310

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