ClinVar Miner

List of variants reported as likely benign 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: 7
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HGVS dbSNP
NM_000253.3(MTTP):c.502G>A (p.Val168Ile) rs61750974
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) rs11557600
NM_014646.2(LPIN2):c.1169-7del rs746626720
NM_014646.2(LPIN2):c.1735T>C (p.Ser579Pro) rs150022314
NM_014646.2(LPIN2):c.2671G>A (p.Asp891Asn) rs200648652
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818
NM_080669.6(SLC46A1):c.294C>A (p.Leu98=) rs371270310

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