ClinVar Miner

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

Included ClinVar conditions (258):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_000135.2(FANCA):c.2606A>C (p.Gln869Pro) rs780825099
NM_000135.2(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197
NM_000135.3(FANCA):c.1226-2A>G rs773906241
NM_000135.3(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.3(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980
NM_000188.2(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000518.5(HBB):c.-138C>A rs33944208
NM_001166686.1(PFKM):c.450+1G>A rs202143236
NM_002485.4(NBN):c.2140C>T (p.Arg714Ter) rs730881864
NM_006516.3(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_006996.2(SLC19A2):c.807+2T>G rs1234256852
NM_032957.4(RTEL1):c.2686C>T (p.Arg896Ter) rs961593162
NM_058216.2(RAD51C):c.404+2T>C rs730881931

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