List of variants reported as pathogenic for Fanconi anemia complementation group D2 by Leiden Open Variation Database

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Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg)	rs35782247	0.02918
NM_001018115.3(FANCD2):c.2715+1G>A	rs201811817	0.00016
NM_001018115.3(FANCD2):c.2444G>A (p.Arg815Gln)	rs766567785	0.00004
NM_001018115.3(FANCD2):c.1370T>C (p.Leu457Pro)	rs1181436417	0.00001
NM_001018115.3(FANCD2):c.1948-6C>A	rs779350241	0.00001
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His)	rs121917786	0.00001
NM_001018115.3(FANCD2):c.376A>G (p.Ser126Gly)	rs764507146	0.00001
NM_001018115.3(FANCD2):c.757C>T (p.Arg253Ter)	rs374328858	0.00001
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met)	rs778289599	0.00001
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp)	rs121917787	0.00001
NC_000003.12:g.(10041711_10042558)_(10043865_10046579)dup
NC_000003.12:g.(10048052_10049373)_(10049506_10052386)del
NC_000003.12:g.(10049506_10052386)_(10052498_10060293)del
NM_001018115.3(FANCD2):c.1092G>A (p.Trp364Ter)	rs2086921262
NM_001018115.3(FANCD2):c.1321_1322del (p.Ser441fs)	rs2087073639
NM_001018115.3(FANCD2):c.1414-69_1545+258del	rs2087125303
NM_001018115.3(FANCD2):c.1948-16T>G	rs2087653225
NM_001018115.3(FANCD2):c.206-2A>T	rs771573600
NM_001018115.3(FANCD2):c.2404C>T (p.Gln802Ter)	rs1374735618
NM_001018115.3(FANCD2):c.2661del (p.Glu888fs)	rs762544228
NM_001018115.3(FANCD2):c.2775_2776delinsTT (p.Arg926Ter)	rs1693433379
NM_001018115.3(FANCD2):c.2835dup (p.Asp947fs)	rs1693439048
NM_001018115.3(FANCD2):c.2T>C (p.Met1Thr)	rs2086516483
NM_001018115.3(FANCD2):c.3453_3456del (p.Asn1151fs)	rs1559403654
NM_001018115.3(FANCD2):c.3599del (p.Ile1200fs)	rs1694404041
NM_001018115.3(FANCD2):c.3706C>A (p.Arg1236Ser)	rs771078251
NM_001018115.3(FANCD2):c.3803G>A (p.Trp1268Ter)	rs757499508
NM_001018115.3(FANCD2):c.692T>G (p.Leu231Arg)	rs2086819957
NM_001018115.3(FANCD2):c.696-121C>G	rs2086862509
NM_001018115.3(FANCD2):c.696-2A>T	rs2086865333
NM_001018115.3(FANCD2):c.810GTC[1] (p.Ser272del)	rs748327074
NM_001018115.3(FANCD2):c.958C>T (p.Gln320Ter)	rs121917788

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