List of variants reported as pathogenic for Fanconi anemia by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter)	rs761341952	0.00012
NM_004629.2(FANCG):c.1077-2A>G	rs769547477	0.00002
NM_004629.2(FANCG):c.313G>T (p.Glu105Ter)	rs121434425	0.00001
NM_000059.4(BRCA2):c.5453C>A (p.Ser1818Ter)	rs1566232471
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter)	rs753980264
NM_000135.4(FANCA):c.1979T>C (p.Leu660Pro)	rs1567621042
NM_000135.4(FANCA):c.2317-2A>G	rs1567618264
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter)	rs1247378731
NM_000135.4(FANCA):c.2533_2536del (p.Leu845fs)	rs763378933
NM_004629.2(FANCG):c.1158del (p.Ser387fs)	rs757418016
NM_004629.2(FANCG):c.1158dup (p.Ser387fs)	rs757418016

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