List of variants reported as pathogenic for hematologic disorder by Sema4, Sema4

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter)	rs761341952	0.00012
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala)	rs574034197	0.00009
NM_001018115.3(FANCD2):c.990-1G>A	rs112832879	0.00005
NM_005476.7(GNE):c.737G>A (p.Arg246Gln)	rs121908629	0.00003
NM_000135.4(FANCA):c.894-2A>G	rs976556567	0.00001
NM_005476.7(GNE):c.2135T>C (p.Met712Thr)	rs28937594	0.00001
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs)	rs878853660
NM_000135.4(FANCA):c.2839dup (p.Ser947fs)	rs756367276
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)	rs397507553
NM_000136.3(FANCC):c.455dup (p.Asn152fs)	rs774170058
NM_001018115.3(FANCD2):c.3803G>A (p.Trp1268Ter)	rs757499508
NM_022725.4(FANCF):c.484_485del (p.Leu162fs)	rs587778340

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