List of variants reported as pathogenic for Fanconi anemia complementation group D2 by Revvity Omics, Revvity

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001018115.3(FANCD2):c.2715+1G>A	rs201811817	0.00016
NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter)	rs755350165	0.00004
NM_001018115.3(FANCD2):c.2444G>A (p.Arg815Gln)	rs766567785	0.00004
NM_001018115.3(FANCD2):c.2605+1G>A	rs142365855	0.00003
NM_001018115.3(FANCD2):c.3299_3300del (p.Gln1100fs)	rs770686014	0.00001
NM_001018115.3(FANCD2):c.491+1G>A	rs943009372	0.00001
NM_001018115.3(FANCD2):c.2160del (p.Gly721fs)	rs2125035511
NM_001018115.3(FANCD2):c.2487C>G (p.Tyr829Ter)	rs1289665675
NM_001018115.3(FANCD2):c.2977-2A>G	rs1206160345
NM_001018115.3(FANCD2):c.3453_3456del (p.Asn1151fs)	rs1559403654
NM_001018115.3(FANCD2):c.3500G>A (p.Trp1167Ter)	rs2125076610
NM_001018115.3(FANCD2):c.958C>T (p.Gln320Ter)	rs121917788
NM_001018115.3(FANCD2):c.99_102del (p.Lys33fs)	rs1283566463

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