List of variants in gene FANCA reported as pathogenic by Natera, Inc.

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: 36

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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.3349A>G (p.Arg1117Gly)	rs149277003	0.00006
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.3349-1G>A	rs769862233	0.00004
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys)	rs148473140	0.00002
NM_000135.4(FANCA):c.154C>T (p.Arg52Ter)	rs773159223	0.00002
NM_000135.4(FANCA):c.2778+1G>A	rs140180549	0.00002
NM_000135.4(FANCA):c.1226-2A>G	rs773906241	0.00001
NM_000135.4(FANCA):c.1645C>T (p.Gln549Ter)	rs779745863	0.00001
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter)	rs752160950	0.00001
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs)	rs1374769712	0.00001
NM_000135.4(FANCA):c.597-1G>C	rs147945881	0.00001
NM_000135.4(FANCA):c.709+5G>A	rs759877008	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.1615del (p.Asp539fs)	rs778507965
NM_000135.4(FANCA):c.238del (p.Cys80fs)	rs864622187
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter)	rs1555547474
NM_000135.4(FANCA):c.2535_2536del (p.Cys846fs)	rs763378933
NM_000135.4(FANCA):c.2546del (p.Ser849fs)	rs1060501876
NM_000135.4(FANCA):c.2730_2731del (p.Trp911fs)	rs878853663
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter)	rs1060501880
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer)	rs1283284704
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp)	rs755546887
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp)	rs753063086
NM_000135.4(FANCA):c.3188G>A (p.Trp1063Ter)	rs1166286386
NM_000135.4(FANCA):c.3239+1dup	rs766989857
NM_000135.4(FANCA):c.3517TGG[1] (p.Trp1174del)	rs1555536446
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs)	rs747851434
NM_000135.4(FANCA):c.3638_3639del (p.Pro1213fs)	rs1304878514
NM_000135.4(FANCA):c.416_417del (p.Val139fs)	rs864622188
NM_000135.4(FANCA):c.548G>A (p.Trp183Ter)	rs1598184500
NM_000135.4(FANCA):c.643_644del (p.Cys215fs)	rs1338138752
NM_000135.4(FANCA):c.916_917del (p.Thr306fs)	rs764122657
NM_000135.4(FANCA):c.987_990del (p.His330fs)	rs772359099

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