List of variants in gene combination FANCA, LOC132090450 reported as likely pathogenic for anemia

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000135.4(FANCA):c.3382C>T (p.Gln1128Ter)	rs1439817346
NM_000135.4(FANCA):c.3392C>A (p.Thr1131Asn)
NM_000135.4(FANCA):c.3392C>T (p.Thr1131Ile)	rs2143109078
NM_000135.4(FANCA):c.3393_3395delinsA (p.Ala1132fs)
NM_000135.4(FANCA):c.3400TTC[1] (p.Phe1135del)	rs786204246
NM_000135.4(FANCA):c.3402dup (p.Phe1135fs)	rs1555537347
NM_000135.4(FANCA):c.3408+1G>C	rs1567601557
NM_000135.4(FANCA):c.3409-25_3418del

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