List of variants in gene AARS1 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: 32

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HGVS	dbSNP	gnomAD frequency
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp)	rs138081804	0.00072
NM_001605.3(AARS1):c.2580G>A (p.Leu860=)	rs145581652	0.00065
NM_001605.3(AARS1):c.2222C>T (p.Thr741Met)	rs148383122	0.00030
NM_001605.3(AARS1):c.1019A>G (p.Asn340Ser)	rs140135726	0.00018
NM_001605.3(AARS1):c.1108A>G (p.Met370Val)	rs199976742	0.00014
NM_001605.3(AARS1):c.2192C>T (p.Ser731Leu)	rs150873930	0.00013
NM_001605.3(AARS1):c.385C>G (p.Pro129Ala)	rs370622071	0.00013
NM_001605.3(AARS1):c.1253A>G (p.Tyr418Cys)	rs147433234	0.00010
NM_001605.3(AARS1):c.1811A>G (p.Asn604Ser)	rs371595630	0.00010
NM_001605.3(AARS1):c.497T>G (p.Ile166Ser)	rs199997425	0.00010
NM_001605.3(AARS1):c.958C>T (p.Arg320Cys)	rs138490305	0.00007
NM_001605.3(AARS1):c.1420C>T (p.Arg474Trp)	rs377163632	0.00004
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly)	rs143370729	0.00004
NM_001605.3(AARS1):c.2732A>G (p.Asn911Ser)	rs746822330	0.00003
NM_001605.3(AARS1):c.503C>T (p.Pro168Leu)	rs763378637	0.00003
NM_001605.3(AARS1):c.1043C>T (p.Thr348Met)	rs762241422	0.00002
NM_001605.3(AARS1):c.1208G>C (p.Ser403Thr)	rs551899273	0.00002
NM_001605.3(AARS1):c.2129C>T (p.Pro710Leu)	rs754391789	0.00002
NM_001605.3(AARS1):c.1388T>C (p.Ile463Thr)	rs1597439359	0.00001
NM_001605.3(AARS1):c.1823C>T (p.Thr608Met)	rs1597435885	0.00001
NM_001605.3(AARS1):c.1949A>G (p.Lys650Arg)	rs142233951	0.00001
NM_001605.3(AARS1):c.72G>A (p.Thr24=)	rs780609058	0.00001
NM_001605.3(AARS1):c.783C>G (p.Asp261Glu)	rs1374950172	0.00001
NM_001605.3(AARS1):c.1138G>T (p.Val380Leu)	rs1597440700
NM_001605.3(AARS1):c.1180G>T (p.Asp394Tyr)	rs2152160177
NM_001605.3(AARS1):c.1222G>A (p.Gly408Arg)	rs369135192
NM_001605.3(AARS1):c.1409T>A (p.Ile470Asn)	rs1567605658
NM_001605.3(AARS1):c.1429G>A (p.Gly477Ser)	rs1228135551
NM_001605.3(AARS1):c.205G>C (p.Ala69Pro)	rs767533880
NM_001605.3(AARS1):c.2333A>C (p.Glu778Ala)	rs797044801
NM_001605.3(AARS1):c.304G>C (p.Gly102Arg)	rs1597446183
NM_001605.3(AARS1):c.773A>G (p.Tyr258Cys)	rs1597442205

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