List of variants in gene combination FANCA, LOC112486223 reported as likely 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.65G>A (p.Trp22Ter)	rs761341952	0.00012
NM_000135.4(FANCA):c.3G>T (p.Met1Ile)	rs1555581729	0.00001
NM_000135.4(FANCA):c.79+1G>A	rs1483028018	0.00001
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter)	rs1484087361
NM_000135.4(FANCA):c.16dup (p.Val6fs)
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.2T>A (p.Met1Lys)	rs769479800
NM_000135.4(FANCA):c.32del (p.Ser11fs)
NM_000135.4(FANCA):c.79+1G>C	rs1483028018

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