ClinVar Miner

List of variants reported as benign for autosomal recessive severe congenital neutropenia due to CSF3R deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000760.4(CSF3R):c.1260T>C (p.Thr420=) rs3917981 0.59625
NM_000760.4(CSF3R):c.1254T>C (p.Arg418=) rs3917980 0.28603
NM_000760.4(CSF3R):c.1528G>C (p.Asp510His) rs3917991 0.05672
NM_000760.4(CSF3R):c.692T>C (p.Met231Thr) rs3917973 0.02621
NM_000760.4(CSF3R):c.1037A>G (p.Gln346Arg) rs3917974 0.02609
NM_000760.4(CSF3R):c.958G>A (p.Asp320Asn) rs3918018 0.02119
NM_000760.4(CSF3R):c.105C>A (p.Ile35=) rs3917954 0.01973
NM_000760.4(CSF3R):c.726C>T (p.Ala242=) rs3918017 0.01333
NM_000760.4(CSF3R):c.1794C>T (p.Ile598=) rs3917998 0.00872
NM_000760.4(CSF3R):c.1684T>C (p.Tyr562His) rs3917996 0.00717
NM_000760.4(CSF3R):c.2422G>A (p.Glu808Lys) rs146617729 0.00588
NM_000760.4(CSF3R):c.1213G>A (p.Glu405Lys) rs3918019 0.00492
NM_000760.4(CSF3R):c.1319G>A (p.Arg440Gln) rs3918020 0.00363
NM_000760.4(CSF3R):c.447G>C (p.Glu149Asp) rs139332126 0.00300
NM_000760.4(CSF3R):c.108C>T (p.Val36=) rs3918011 0.00193
NM_000760.4(CSF3R):c.1689C>A (p.Thr563=) rs113047241 0.00158
NM_000760.4(CSF3R):c.2334G>A (p.Ala778=) rs116118817 0.00154
NM_000760.4(CSF3R):c.1458G>A (p.Thr486=) rs138289951 0.00150
NM_000760.4(CSF3R):c.1410G>A (p.Ala470=) rs3917988 0.00135
NM_000760.4(CSF3R):c.1577-12C>G rs200420429 0.00125
NM_000760.4(CSF3R):c.1723+8T>C rs143931193 0.00076
NM_000760.4(CSF3R):c.2496G>A (p.Ala832=) rs150501885 0.00056
NM_000760.4(CSF3R):c.2197C>A (p.Pro733Thr) rs78861150 0.00042
NM_000760.4(CSF3R):c.2484T>C (p.His828=) rs149680734 0.00010
NM_000760.4(CSF3R):c.1286-3C>T rs778391319 0.00001

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