List of variants reported as pathogenic for Fanconi anemia complementation group A by OMIM

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)	rs372254398	0.00005
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter)	rs752160950	0.00001
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe)	rs753700179	0.00001
NM_000135.4(FANCA):c.709+5G>A	rs759877008	0.00001
NM_000135.2(FANCA):c.1007_3066del
NM_000135.2:c.1471_1626del
NM_000135.2:c.1627_1900del
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)	rs397507552
NM_000135.4(FANCA):c.1606del (p.Ser536fs)	rs587776570
NM_000135.4(FANCA):c.1615del (p.Asp539fs)	rs778507965
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs)	rs747851434
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs)	rs794726660
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)	rs397507553
NM_000135.4(FANCA):c.513G>A (p.Trp171Ter)	rs121907930
NM_000135.4(FANCA):c.894_1006del (p.Trp298Cysfs)

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