ClinVar Miner

List of variants studied for Fanconi anemia complementation group L by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (1):
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_018062.4(FANCL):c.147_148delinsTT (p.Lys49_Asn50delinsAsnTyr) rs1558825558
NM_018062.4(FANCL):c.148delinsTT (p.Asn50fs)
NM_018062.4(FANCL):c.548TAA[1] (p.Ile184del) rs1573532439

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