List of variants reported as pathogenic for Fanconi anemia complementation group A by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000135.4(FANCA):c.2T>C (p.Met1Thr)	rs769479800	0.00004
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys)	rs745882980	0.00001
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter)	rs372163487	0.00001
NM_000135.4(FANCA):c.2535_2536del (p.Cys846fs)	rs763378933
NM_000135.4(FANCA):c.3066+1G>T	rs587783028
NM_000135.4(FANCA):c.3239+1dup	rs766989857
NM_000135.4(FANCA):c.3931_3932del (p.Glu1310_Ser1311insTer)	rs1403231932
NM_000135.4(FANCA):c.3934+2T>C	rs771775516

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