ClinVar Miner

List of variants in gene FANCA reported as uncertain significance by Neuberg Centre For Genomic Medicine, NCGM

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr) rs201212806 0.00006
NM_000135.4(FANCA):c.2284C>A (p.Leu762Ile) rs1387374844
NM_000135.4(FANCA):c.2729T>C (p.Leu910Pro) rs911818576
NM_000135.4(FANCA):c.2786A>C (p.Tyr929Ser) rs2038969615
NM_000135.4(FANCA):c.3251G>C (p.Arg1084Pro) rs752642945
NM_000135.4(FANCA):c.3342_3343insCCT (p.Ser1114_Glu1115insPro) rs2544125985
NM_000135.4(FANCA):c.377C>T (p.Thr126Met) rs139160837

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