List of variants in gene combination FANCA, LOC112486223 reported as 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: 18

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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.2T>C (p.Met1Thr)	rs769479800	0.00004
NM_000135.4(FANCA):c.-1_2del (p.Met1del)	rs2143732272
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter)	rs1484087361
NM_000135.4(FANCA):c.14G>A (p.Trp5Ter)	rs2041143697
NM_000135.4(FANCA):c.15G>A (p.Trp5Ter)
NM_000135.4(FANCA):c.1A>C (p.Met1Leu)	rs772751654
NM_000135.4(FANCA):c.1A>G (p.Met1Val)	rs772751654
NM_000135.4(FANCA):c.1A>T (p.Met1Leu)	rs772751654
NM_000135.4(FANCA):c.1del (p.Met1fs)
NM_000135.4(FANCA):c.2T>A (p.Met1Lys)	rs769479800
NM_000135.4(FANCA):c.2T>G (p.Met1Arg)	rs769479800
NM_000135.4(FANCA):c.35_36insA (p.Gln13fs)
NM_000135.4(FANCA):c.44_69del (p.Pro15fs)	rs2041137887
NM_000135.4(FANCA):c.50del (p.Gly17fs)	rs748624754
NM_000135.4(FANCA):c.50dup (p.Arg18fs)
NM_000135.4(FANCA):c.66G>A (p.Trp22Ter)	rs2041138210
NM_000135.4(FANCA):c.70G>T (p.Glu24Ter)	rs1311396994

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