ClinVar Miner

List of variants in gene FANCA, LOC112486223 studied for Fanconi anemia

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NC_000016.9:g.(?_89818536)_(89883033_?)del
NC_000016.9:g.(?_89833543)_(89883029_?)del
NC_000016.9:g.(?_89857801)_(89883033_?)del
NC_000016.9:g.(?_89857810)_(89883023_?)del
NC_000016.9:g.(?_89877105)_(89883033_?)del
NC_000016.9:g.(?_89877109)_(89883029_?)del
NC_000016.9:g.(?_89880918)_(89883033_?)dup
NC_000016.9:g.(?_89880922)_(89883029_?)del
NC_000016.9:g.(?_89880928)_(89883065_?)dup
NM_000135.2(FANCA):c.1_2151+1del
NM_000135.3(FANCA):c.(?_-1)_522+?del
NM_000135.4(FANCA):c.-18G>A rs886038245
NM_000135.4(FANCA):c.-28C>G rs886052490
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter) rs1484087361
NM_000135.4(FANCA):c.16_36dup (p.Val6_Gly12dup) rs1555581601
NM_000135.4(FANCA):c.17T>A (p.Val6Asp) rs1800282
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.21G>T (p.Pro7=) rs115856189
NM_000135.4(FANCA):c.23A>G (p.Asn8Ser) rs757468756
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys) rs76275444
NM_000135.4(FANCA):c.28G>A (p.Ala10Thr)
NM_000135.4(FANCA):c.2T>A (p.Met1Lys) rs769479800
NM_000135.4(FANCA):c.2T>C (p.Met1Thr) rs769479800
NM_000135.4(FANCA):c.3G>T (p.Met1Ile) rs1555581729
NM_000135.4(FANCA):c.7G>T (p.Asp3Tyr) rs1246636933

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