List of variants in gene combination AARS2, POLR1C reported as uncertain significance for Leukoencephalopathy, progressive, with ovarian failure

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_020745.4(AARS2):c.1157C>T (p.Ala386Val)	rs143271585	0.00019
NM_020745.4(AARS2):c.1687A>T (p.Asn563Tyr)	rs2153354521
NM_020745.4(AARS2):c.31_39del (p.Leu12_Arg14del)	rs562829310
NM_020745.4(AARS2):c.907C>A (p.Pro303Thr)
NM_020745.4(AARS2):c.995G>A (p.Ser332Asn)

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