List of variants in gene CDCA7 studied for Immunodeficiency-centromeric instability-facial anomalies syndrome 3

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_031942.5(CDCA7):c.622-128C>T	rs4972555	0.83121
NM_031942.5(CDCA7):c.1077C>G (p.Thr359=)	rs116079323	0.01832
NM_031942.5(CDCA7):c.745A>C (p.Arg249=)	rs146148251	0.00053
NM_031942.5(CDCA7):c.731C>T (p.Pro244Leu)	rs770948684	0.00006
NM_031942.5(CDCA7):c.1148G>A (p.Arg383His)	rs772929976	0.00001
NM_031942.5(CDCA7):c.1057C>T (p.Arg353Cys)	rs879253738
NM_031942.5(CDCA7):c.1058G>A (p.Arg353His)	rs370384522
NM_031942.5(CDCA7):c.1118del (p.Gly373fs)	rs876657409
NM_031942.5(CDCA7):c.1314_1319del (p.Tyr438_Lys440delinsTer)
NM_031942.5(CDCA7):c.547T>C (p.Ser183Pro)
NM_031942.5(CDCA7):c.895-27C>G	rs2288993

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