ClinVar Miner

List of variants reported as likely pathogenic for anemia (disease) by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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NM_000135.4(FANCA):c.1226-2A>G rs773906241
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980
NM_000289.6(PFKM):c.237+1G>A rs202143236
NM_000518.5(HBB):c.-138C>A rs33944208
NM_001358263.1(HK1):c.1382C>T (p.Thr461Met) rs1057517928
NM_002485.4(NBN):c.2140C>T (p.Arg714Ter) rs730881864
NM_006516.3(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_006996.3(SLC19A2):c.807+2T>G rs1234256852
NM_058216.3(RAD51C):c.404+2T>C rs730881931

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