ClinVar Miner

List of variants reported as likely pathogenic for anemia (disease) by Department of Genetic, Henri Mondor Hospital,Assistance Publique des Hôpitaux de Paris

Included ClinVar conditions (263):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_000342.4(SLC4A1):c.1322T>G (p.Leu441Arg) rs1555596165
NM_000342.4(SLC4A1):c.2423G>A (p.Arg808His) rs866727908
NM_000342.4(SLC4A1):c.695-3C>A rs772264078
NM_001142446.2(ANK1):c.127-39401A>G rs1554627073
NM_001355436.2(SPTB):c.3916C>T (p.Arg1306Ter) rs150471537
NM_001355436.2(SPTB):c.4973+5G>A rs1555367789
NM_001355436.2(SPTB):c.647G>A (p.Arg216Gln) rs1555371769
NM_001360016.2(G6PD):c.448G>A (p.Val150Ile) rs1557230573
NM_003126.4(SPTA1):c.2898G>A (p.Gln966=) rs1553232007
NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp) rs41273519
NM_003126.4(SPTA1):c.6600+5G>T rs1462060431
NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp) rs142775522

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