List of variants in gene KARS1 studied 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
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln)	rs149772470	0.00160
NM_005548.3(KARS1):c.274G>C (p.Glu92Gln)	rs11557669	0.00044
NM_005548.3(KARS1):c.822C>G (p.Ile274Met)	rs146955132	0.00022
NM_005548.3(KARS1):c.599C>T (p.Pro200Leu)	rs201650281	0.00013
NM_005548.3(KARS1):c.1256C>T (p.Thr419Ile)	rs773192982	0.00009
NM_005548.3(KARS1):c.382G>A (p.Val128Met)	rs374126791	0.00004
NM_005548.3(KARS1):c.1520G>A (p.Arg507Gln)	rs752076127	0.00002
NM_005548.3(KARS1):c.223-6del	rs370077957
NM_005548.3(KARS1):c.223-7_223-6del	rs370077957
NM_005548.3(KARS1):c.223-8_223-6del	rs370077957
NM_005548.3(KARS1):c.314T>A (p.Leu105His)	rs267607194
NM_005548.3(KARS1):c.430_431dup (p.Tyr145fs)	rs587776688
NM_005548.3(KARS1):c.440_441dup (p.Arg148fs)	rs1597170012

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