ClinVar Miner

List of variants in gene NCF4 reported as pathogenic for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000631.5(NCF4):c.758+50C>T rs201021542 0.00011
NM_000631.5(NCF4):c.759-1G>C rs200347935 0.00006
NM_000631.5(NCF4):c.118-1G>A rs28445840 0.00005
NM_000631.5(NCF4):c.314G>A (p.Arg105Gln) rs387906808 0.00004
NM_000631.5(NCF4):c.143_152dup (p.Lys52fs) rs869025585 0.00002
NM_000631.5(NCF4):c.529-2A>T rs199890705 0.00002
NM_000631.5(NCF4):c.143_152del (p.Lys48fs) rs876657377
NM_000631.5(NCF4):c.256del (p.Leu86fs)
NM_000631.5(NCF4):c.32+2T>G rs1601543670
NM_000631.5(NCF4):c.367del (p.Val123fs)
NM_000631.5(NCF4):c.456del (p.Arg153fs)
NM_000631.5(NCF4):c.716G>A (p.Trp239Ter) rs1940176752
NM_000631.5(NCF4):c.758+28_758+29insA
NM_000631.5(NCF4):c.758+36_758+81del
NM_000631.5(NCF4):c.759-19C>T
NM_000631.5(NCF4):c.759-24T>G
NM_000631.5(NCF4):c.759-40C>T

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