ClinVar Miner

List of variants studied for anemia (disease) by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (263):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500
NM_001010986.3(ATP11C):c.1253C>A (p.Thr418Asn) rs1556323334
NM_016038.4(SBDS):c.131A>G (p.Glu44Gly) rs1554341516
NM_016038.4(SBDS):c.199A>G (p.Lys67Glu) rs1554341499
NM_016038.4(SBDS):c.24C>A (p.Asn8Lys) rs28942099
NM_016038.4(SBDS):c.260T>G (p.Ile87Ser) rs1554341363
NM_016038.4(SBDS):c.505C>T (p.Arg169Cys) rs113993996
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818
NM_024580.6(EFL1):c.3284G>A (p.Arg1095Gln) rs376095522
NM_148923.4(CYB5A):c.131A>T (p.His44Leu) rs1555688659
NM_148923.4(CYB5A):c.81G>A (p.Trp27Ter) rs1555691399

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