ClinVar Miner

List of variants in gene combination FANCE, LOC129996245 reported as likely benign for DNA repair disease

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_021922.3(FANCE):c.-56C>T rs4713866 0.01055
NM_021922.3(FANCE):c.248+7C>A rs186563531 0.00255
NM_021922.3(FANCE):c.246G>A (p.Glu82=) rs769779495 0.00020
NM_021922.3(FANCE):c.52C>T (p.Pro18Ser) rs552241929 0.00009
NM_021922.3(FANCE):c.210G>A (p.Glu70=) rs1008512809 0.00005
NM_021922.3(FANCE):c.84C>T (p.Leu28=) rs1160645936 0.00004
NM_021922.3(FANCE):c.148C>T (p.Leu50=) rs1278828834 0.00001
NM_021922.3(FANCE):c.15C>T (p.Asp5=) rs1298974698 0.00001
NM_021922.3(FANCE):c.216G>T (p.Pro72=) rs886061328 0.00001
NM_021922.3(FANCE):c.105G>A (p.Ala35=)
NM_021922.3(FANCE):c.105G>C (p.Ala35=)
NM_021922.3(FANCE):c.108G>T (p.Gly36=)
NM_021922.3(FANCE):c.12G>A (p.Pro4=) rs2150885362
NM_021922.3(FANCE):c.138G>A (p.Val46=) rs2150885789
NM_021922.3(FANCE):c.141C>T (p.Leu47=)
NM_021922.3(FANCE):c.153C>T (p.Gly51=)
NM_021922.3(FANCE):c.159C>G (p.Arg53=)
NM_021922.3(FANCE):c.162C>T (p.Gly54=)
NM_021922.3(FANCE):c.174C>T (p.Phe58=)
NM_021922.3(FANCE):c.18G>T (p.Ala6=) rs962145261
NM_021922.3(FANCE):c.192C>G (p.Leu64=)
NM_021922.3(FANCE):c.199C>T (p.Leu67=) rs1161408735
NM_021922.3(FANCE):c.207G>T (p.Arg69=)
NM_021922.3(FANCE):c.216G>A (p.Pro72=)
NM_021922.3(FANCE):c.222G>C (p.Val74=) rs1015415361
NM_021922.3(FANCE):c.222G>T (p.Val74=) rs1015415361
NM_021922.3(FANCE):c.248+11G>A
NM_021922.3(FANCE):c.248+11G>C
NM_021922.3(FANCE):c.248+13C>T
NM_021922.3(FANCE):c.248+14C>A
NM_021922.3(FANCE):c.248+19C>T
NM_021922.3(FANCE):c.39C>T (p.Gly13=)
NM_021922.3(FANCE):c.51G>T (p.Ala17=)
NM_021922.3(FANCE):c.54C>T (p.Pro18=)
NM_021922.3(FANCE):c.75C>T (p.Pro25=)
NM_021922.3(FANCE):c.96G>T (p.Ala32=)

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