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

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_018062.4(FANCL):c.296_297del (p.Gln99fs)	rs779544327	0.00007
NM_000135.4(FANCA):c.236_239del (p.Asp79fs)	rs1336033143
NM_000135.4(FANCA):c.275C>G (p.Ser92Ter)	rs1183559927
NM_000136.3(FANCC):c.1257del (p.Thr420fs)	rs765551897
NM_000136.3(FANCC):c.519del (p.Arg173fs)	rs1564719070
NM_032444.4(SLX4):c.4391_4403del (p.Ser1464fs)	rs1596519879
NM_032444.4(SLX4):c.4405del (p.Ser1469fs)	rs1596519854

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