ClinVar Miner

List of variants reported as likely pathogenic for anemia (disease) by Molecular Diagnostics Laboratory,M Health: University of Minnesota

Included ClinVar conditions (264):
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ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_000135.2(FANCA):c.1_2151+1del
NM_000135.2:c.523_2601del
NM_000135.2:c.894_2641del
NM_000135.4(FANCA):c.1342T>C (p.Tyr448His) rs1567635573
NM_000135.4(FANCA):c.2014+1G>C
NM_000135.4(FANCA):c.2164_2166CTG[1] (p.Leu723del) rs1567618907
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447
NM_000135.4(FANCA):c.3070A>G (p.Met1024Val) rs1567603987
NM_000135.4(FANCA):c.3349-1G>A rs769862233
NM_001134224.1(INPP4A):c.36C>T (p.Ala12=) rs1306444586
NM_032444.4(SLX4):c.425del (p.Gly142fs) rs757662453
NM_033084.5(FANCD2):c.3095del (p.Asn1032fs) rs1559399574
NM_033084.5(FANCD2):c.904C>T (p.Arg302Trp) rs121917787

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