List of variants in gene combination FANCA, LOC132090450 reported as pathogenic for bone marrow disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala)	rs574034197	0.00009
NM_000135.4(FANCA):c.3382C>G (p.Gln1128Glu)	rs1439817346	0.00001
NM_000135.4(FANCA):c.3241_3626+1del
NM_000135.4(FANCA):c.3386A>T (p.Asp1129Val)	rs2038408351
NM_000135.4(FANCA):c.3394_3395del (p.Ala1132fs)
NM_000135.4(FANCA):c.3396_3399del (p.His1133fs)	rs2038407808
NM_000135.4(FANCA):c.3397del (p.His1133fs)	rs758917273
NM_000135.4(FANCA):c.3398del (p.His1133fs)	rs2038407878
NM_000135.4(FANCA):c.3400TTC[1] (p.Phe1135del)	rs786204246
NM_000135.4(FANCA):c.3401dup (p.Phe1135fs)
NM_000135.4(FANCA):c.3402dup (p.Phe1135fs)	rs1555537347

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