List of variants in gene FANCA reported as pathogenic by Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys)	rs148473140	0.00002
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer)	rs757504102	0.00001
NM_000135.4(FANCA):c.1776+1G>A	rs756140957	0.00001
NM_000135.4(FANCA):c.709+5G>A	rs759877008	0.00001
NM_000135.4(FANCA):c.991del (p.Ser331fs)	rs746236214	0.00001
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs)	rs878853660
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)	rs397507552
NM_000135.4(FANCA):c.2853-15_2856del	rs1285346388
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp)	rs753063086
NM_000135.4(FANCA):c.3189G>A (p.Trp1063Ter)	rs776391208
NM_000135.4(FANCA):c.97del (p.Glu33fs)	rs786204238
NM_000135.4(FANCA):c.987_990del (p.His330fs)	rs772359099

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