ClinVar Miner

List of variants reported as pathogenic for anemia (disease) by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (263):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met) rs28931584
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507
NM_005334.3(HCFC1):c.5048C>G (p.Pro1683Arg) rs869312686
NM_024675.3(PALB2):c.3323del (p.Tyr1108fs) rs180177135

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