List of variants reported as likely pathogenic for Fanconi anemia complementation group A by Fulgent Genetics, Fulgent Genetics

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Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_000135.4(FANCA):c.1777-1G>C	rs755104393	0.00002
NM_000135.4(FANCA):c.1226-2A>G	rs773906241	0.00001
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro)	rs780825099	0.00001
NM_000135.4(FANCA):c.2738A>C (p.His913Pro)	rs1302083447	0.00001
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs)	rs1374769712	0.00001
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys)	rs745882980	0.00001
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter)	rs1384166265	0.00001
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs)	rs769580546
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter)	rs1484087361
NM_000135.4(FANCA):c.1292dup (p.Leu432fs)	rs1416639878
NM_000135.4(FANCA):c.1294del (p.Leu432fs)	rs1211579979
NM_000135.4(FANCA):c.1470+2T>C	rs2039844134
NM_000135.4(FANCA):c.1715+1G>T	rs1555552506
NM_000135.4(FANCA):c.1809dup (p.Ile604fs)	rs1343140664
NM_000135.4(FANCA):c.1844dup (p.Ser616fs)	rs779375100
NM_000135.4(FANCA):c.1850_1859del (p.Leu617fs)	rs2143393148
NM_000135.4(FANCA):c.1901-2A>G	rs1555549535
NM_000135.4(FANCA):c.1A>T (p.Met1Leu)	rs772751654
NM_000135.4(FANCA):c.2001dup (p.Ser668fs)	rs2143366568
NM_000135.4(FANCA):c.2151+1dup	rs777971510
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del)	rs1567618907
NM_000135.4(FANCA):c.2316+1_2316+3del	rs2039275264
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp)	rs755546887
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp)	rs753063086
NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter)	rs2038398856
NM_000135.4(FANCA):c.3791_3793del (p.Ser1264del)	rs1183256870
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter)	rs986710868
NM_000135.4(FANCA):c.4010+1_4010+18del	rs752457319
NM_000135.4(FANCA):c.4261-2A>G	rs915983602
NM_000135.4(FANCA):c.916_917del (p.Thr306fs)	rs764122657

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