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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_021922.3(FANCE):c.248+1del	rs1767163932	0.00001
NM_021922.3(FANCE):c.100C>T (p.Gln34Ter)
NM_021922.3(FANCE):c.117_136del (p.Arg41fs)
NM_021922.3(FANCE):c.118del (p.Ala40fs)
NM_021922.3(FANCE):c.125_129dup (p.Leu44fs)
NM_021922.3(FANCE):c.248+1G>A	rs1480350743
NM_021922.3(FANCE):c.248+1G>C
NM_021922.3(FANCE):c.248+1G>T
NM_021922.3(FANCE):c.248+2T>C	rs1581696699
NM_021922.3(FANCE):c.24_33del (p.Pro9fs)
NM_021922.3(FANCE):c.2T>C (p.Met1Thr)	rs1462766132
NM_021922.3(FANCE):c.2_7del (p.Met1_Ala2del)	rs755938406

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