List of variants in gene GARS1 reported as likely pathogenic for Charcot-Marie-Tooth disease

Minimum submission review status:		Collection method:
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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: 11

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HGVS	dbSNP	gnomAD frequency
NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser)	rs192443850	0.00024
NM_002047.4(GARS1):c.1715C>T (p.Pro572Leu)	rs764238525	0.00004
NM_002047.4(GARS1):c.1001T>A (p.Ile334Asn)	rs1554338262
NM_002047.4(GARS1):c.1006C>T (p.Pro336Ser)	rs1554338264
NM_002047.4(GARS1):c.1007C>G (p.Pro336Arg)	rs2128134025
NM_002047.4(GARS1):c.1007C>T (p.Pro336Leu)
NM_002047.4(GARS1):c.1034A>G (p.Glu345Gly)	rs1554338641
NM_002047.4(GARS1):c.1705G>A (p.Glu569Lys)	rs1060502839
NM_002047.4(GARS1):c.631T>C (p.Cys211Arg)	rs1301948344
NM_002047.4(GARS1):c.647A>G (p.His216Arg)	rs768987322
NM_002047.4(GARS1):c.998A>T (p.Glu333Val)	rs863224873

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