List of variants in gene combination AARS2, POLR1C reported as likely pathogenic by GeneDx

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_020745.4(AARS2):c.2162T>C (p.Val721Ala)	rs775065697	0.00013
NM_020745.4(AARS2):c.1052G>A (p.Arg351His)	rs863223862	0.00003
NM_020745.4(AARS2):c.1874G>A (p.Arg625His)	rs898375030	0.00001
NM_020745.4(AARS2):c.2392C>T (p.Gln798Ter)	rs751187394	0.00001
NM_020745.4(AARS2):c.115dup (p.Ala39fs)	rs971969514
NM_020745.4(AARS2):c.1738C>T (p.Arg580Trp)
NM_020745.4(AARS2):c.2051_2052del (p.Val684fs)	rs1167314179
NM_020745.4(AARS2):c.2345C>T (p.Thr782Ile)	rs1085307969
NM_020745.4(AARS2):c.2728_2755del (p.Thr910fs)	rs780343109
NM_020745.4(AARS2):c.781del (p.Gln261fs)	rs1554148927

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