ClinVar Miner

List of variants studied for anemia (disease) by Genome Diagnostics Laboratory,University Medical Center Utrecht

Included ClinVar conditions (263):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_000253.3(MTTP):c.1769+14C>T rs41275713
NM_000253.3(MTTP):c.1981G>A (p.Gly661Ser) rs113337987
NM_000253.3(MTTP):c.502G>A (p.Val168Ile) rs61750974
NM_000253.3(MTTP):c.730C>G (p.Gln244Glu) rs17599091
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) rs11557600
NM_001142446.2(ANK1):c.2448C>T (p.Thr816=) rs2304880
NM_001142446.2(ANK1):c.3036G>C (p.Leu1012=) rs504574
NM_001142446.2(ANK1):c.414C>T (p.Asn138=) rs2304871
NM_001142446.2(ANK1):c.5219+16T>C rs508112
NM_001142446.2(ANK1):c.5388G>A (p.Val1796=) rs750625
NM_001142446.2(ANK1):c.5602-3T>C rs515071
NM_002389.4(CD46):c.417A>G (p.Leu139=) rs12126088
NM_014646.2(LPIN2):c.1169-7del 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_016038.4(SBDS):c.141C>T (p.Leu47=) rs113993989
NM_016038.4(SBDS):c.258+2T>C rs113993993
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818
NM_080669.6(SLC46A1):c.294C>A (p.Leu98=) rs371270310

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