List of variants in gene GARS1 reported as uncertain significance for Charcot-Marie-Tooth disease

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: 26

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HGVS	dbSNP	gnomAD frequency
NM_002047.4(GARS1):c.301C>T (p.Arg101Cys)	rs746056671	0.00014
NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu)	rs201358272	0.00011
NM_002047.4(GARS1):c.19G>T (p.Val7Leu)	rs201132307	0.00009
NM_002047.4(GARS1):c.764C>T (p.Ala255Val)	rs765478968	0.00006
NM_002047.4(GARS1):c.1754T>C (p.Met585Thr)	rs374378925	0.00004
NM_002047.4(GARS1):c.44C>T (p.Ala15Val)	rs758037738	0.00004
NM_002047.4(GARS1):c.1429A>G (p.Lys477Glu)	rs1287718221	0.00001
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn)	rs137852647	0.00001
NM_002047.4(GARS1):c.1905G>A (p.Ser635=)	rs773889809	0.00001
NM_002047.4(GARS1):c.2044C>A (p.His682Asn)	rs1437642803	0.00001
NM_002047.4(GARS1):c.332C>T (p.Ala111Val)	rs370531212	0.00001
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe)	rs1554338260
NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys)	rs370057212
NM_002047.4(GARS1):c.130A>C (p.Ile44Leu)	rs1584017371
NM_002047.4(GARS1):c.1403A>C (p.Asp468Ala)	rs1584043561
NM_002047.4(GARS1):c.1415A>G (p.His472Arg)	rs1060502838
NM_002047.4(GARS1):c.1426A>T (p.Thr476Ser)	rs1783005436
NM_002047.4(GARS1):c.2206A>C (p.Thr736Pro)	rs1785775131
NM_002047.4(GARS1):c.374A>G (p.Glu125Gly)	rs137852645
NM_002047.4(GARS1):c.455C>T (p.Pro152Leu)	rs1554337168
NM_002047.4(GARS1):c.548T>C (p.Leu183Pro)	rs137852644
NM_002047.4(GARS1):c.598G>A (p.Asp200Asn)	rs1554337369
NM_002047.4(GARS1):c.631T>C (p.Cys211Arg)	rs1301948344
NM_002047.4(GARS1):c.794C>T (p.Ser265Phe)	rs1554337974
NM_002047.4(GARS1):c.815T>A (p.Leu272Gln)	rs1554337979
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg)	rs137852643

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