List of variants in gene FANCA reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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.2852G>A (p.Arg951Gln)	rs755922289	0.00013
NM_000135.4(FANCA):c.2778+1G>A	rs140180549	0.00002
NM_000135.4(FANCA):c.2786del (p.Tyr929fs)	rs779480428	0.00001
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter)	rs1291524243	0.00001
GRCh37/hg19 16q24.3(chr16:89815067-89883023)x1
GRCh37/hg19 16q24.3(chr16:89869667-89874775)x1
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs)	rs769580546
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)	rs397507552
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter)	rs753980264
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter)	rs1060501880
NM_000135.4(FANCA):c.2785del (p.Tyr929fs)
NM_000135.4(FANCA):c.893+5G>C	rs2040352785

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