List of variants in gene FANCA reported as pathogenic by Fulgent Genetics, Fulgent Genetics

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)	rs755922289	0.00013
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter)	rs148100796	0.00006
NM_000135.4(FANCA):c.1827-1G>A	rs555449842	0.00005
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys)	rs148473140	0.00002
NM_000135.4(FANCA):c.100A>T (p.Lys34Ter)	rs772858764	0.00001
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter)	rs752160950	0.00001
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter)	rs745568821	0.00001
NM_000135.4(FANCA):c.709+5G>A	rs759877008	0.00001
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter)	rs372163487	0.00001
NM_000135.4(FANCA):c.991del (p.Ser331fs)	rs746236214	0.00001
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)	rs397507552
NM_000135.4(FANCA):c.2172dup (p.Ser725fs)	rs1555547955
NM_000135.4(FANCA):c.2524del (p.Ser842fs)	rs1205909298
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer)	rs1283284704
NM_000135.4(FANCA):c.2853-15_2856del	rs1285346388
NM_000135.4(FANCA):c.3761_3762del (p.Glu1254fs)	rs868273545
NM_000135.4(FANCA):c.560_561insGAGT (p.Gln188fs)	rs2143657184
NM_000135.4(FANCA):c.987_990del (p.His330fs)	rs772359099

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