List of variants in gene combination FANCA, LOC130059837 reported as likely pathogenic for Fanconi anemia complementation group A

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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.2639G>A (p.Arg880Gln)	rs372254398	0.00005
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro)	rs780825099	0.00001
NM_000135.4(FANCA):c.2602-13CT[2]	rs577636020
NM_000135.4(FANCA):c.2602-2A>C	rs1555545592
NM_000135.4(FANCA):c.2604_2609del
NM_000135.4(FANCA):c.2605C>T (p.Gln869Ter)
NM_000135.4(FANCA):c.2630_2631del (p.Phe876_Ser877insTer)	rs1555545553
NM_000135.4(FANCA):c.2632G>C (p.Glu878Gln)	rs1017086086
NM_000135.4(FANCA):c.2647_2648del (p.Leu883fs)
NM_000135.4(FANCA):c.2650del (p.Ser884fs)
NM_000135.4(FANCA):c.2667del (p.Ser890fs)	rs1555545517
NM_000135.4(FANCA):c.2680A>T (p.Arg894Ter)

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