List of variants in gene FANCA reported as uncertain significance 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: 18

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HGVS	dbSNP	gnomAD frequency
NM_000135.4(FANCA):c.893+58A>T	rs199624319	0.00094
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg)	rs61757383	0.00019
NM_000135.4(FANCA):c.1900+7T>A	rs377401016	0.00009
NM_000135.4(FANCA):c.2944A>G (p.Thr982Ala)	rs587778317	0.00003
NM_000135.4(FANCA):c.3260C>T (p.Ser1087Leu)	rs376089640	0.00002
NM_000135.4(FANCA):c.2959G>A (p.Ala987Thr)	rs752735858	0.00001
NM_000135.4(FANCA):c.3626+4C>T	rs772166806	0.00001
NM_000135.4(FANCA):c.3754G>A (p.Glu1252Lys)	rs766875357	0.00001
NM_000135.4(FANCA):c.1615G>A (p.Asp539Asn)	rs2039767633
NM_000135.4(FANCA):c.1663A>C (p.Ile555Leu)	rs1335514576
NM_000135.4(FANCA):c.2201C>T (p.Ser734Phe)	rs753460067
NM_000135.4(FANCA):c.2247C>G (p.Phe749Leu)	rs772842754
NM_000135.4(FANCA):c.2477C>G (p.Thr826Arg)	rs765888048
NM_000135.4(FANCA):c.2965A>G (p.Met989Val)
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg)	rs139160837
NM_000135.4(FANCA):c.454G>C (p.Ala152Pro)	rs2143677716
NM_000135.4(FANCA):c.522+6T>C
NM_000135.4(FANCA):c.744dup (p.Lys249fs)	rs1567645786

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