ClinVar Miner

List of variants in gene LOC106029312, NCF1 studied for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000265.7(NCF1):c.292T>G (p.Cys98Gly) rs144018361 0.00124
NM_000265.7(NCF1):c.269G>A (p.Arg90His) rs201802880 0.00110
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter) rs145360423 0.00054
NM_000265.7(NCF1):c.108G>A (p.Ser36=) rs146173318 0.00031
NM_000265.7(NCF1):c.124C>T (p.Arg42Trp) rs782800778 0.00007
NM_000265.7(NCF1):c.574G>A (p.Gly192Ser) rs119103273 0.00003
NM_000265.7(NCF1):c.125G>A (p.Arg42Gln) rs119103270 0.00002
NM_000265.7(NCF1):c.271C>T (p.Gln91Ter) rs119103271
NM_000265.7(NCF1):c.285_288dup (p.Tyr97fs) rs1584370623
NM_000265.7(NCF1):c.333T>A (p.Cys111Ter) rs119103272
NM_000265.7(NCF1):c.502del (p.Glu168fs) rs1563003964
NM_000265.7(NCF1):c.575-6G>A
NM_000265.7(NCF1):c.682+5C>T
NM_000265.7(NCF1):c.75_76del (p.Tyr26fs) rs4029402
NM_000265.7(NCF1):c.811del (p.Val271fs) rs1307080411
NM_000265.7(NCF1):c.923C>T (p.Ala308Val) rs13739

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