List of variants studied for inherited aplastic anemia by GeneReviews

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000136.3(FANCC):c.456+4A>T	rs104886456	0.00021
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)	rs755922289	0.00013
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)	rs104886457	0.00007
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)	rs104886458	0.00002
NM_004629.2(FANCG):c.1480+1G>C	rs149616199	0.00002
NM_000135.4(FANCA):c.2738A>C (p.His913Pro)	rs1302083447	0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)	rs121917784	0.00001
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)	rs397507552
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp)	rs755546887
NM_000136.3(FANCC):c.165+1G>T	rs794726668
NM_000136.3(FANCC):c.67del (p.Asp23fs)	rs104886459
NM_001011.4(RPS7):c.147+1G>A	rs397507554
NM_004629.2(FANCG):c.1183_1192del (p.Glu395fs)	rs397507559
NM_004629.2(FANCG):c.307+1G>C	rs200479612
NM_004629.2(FANCG):c.925-2A>G	rs397507561

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