ClinVar Miner

List of variants in gene combination FANCA, LOC112486223 reported as uncertain significance for Fanconi anemia complementation group A

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NC_000016.9:g.(?_89880918)_(89883033_?)dup
NC_000016.9:g.(?_89880928)_(89883065_?)dup
NM_000135.4(FANCA):c.-18G>A rs886038245
NM_000135.4(FANCA):c.-28C>G rs886052490
NM_000135.4(FANCA):c.16_36dup (p.Val6_Gly12dup) rs1555581601
NM_000135.4(FANCA):c.23A>G (p.Asn8Ser) rs757468756
NM_000135.4(FANCA):c.28G>A (p.Ala10Thr)
NM_000135.4(FANCA):c.3G>T (p.Met1Ile) rs1555581729
NM_000135.4(FANCA):c.7G>T (p.Asp3Tyr) rs1246636933

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