ClinVar Miner

List of variants in gene LRSAM1 reported as likely benign for Charcot-Marie-Tooth disease

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Total variants: 27
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HGVS dbSNP
NM_138361.5(LRSAM1):c.1026_1027delinsTT (p.Leu342_Leu343=) rs1554757292
NM_138361.5(LRSAM1):c.1044-20T>C rs0
NM_138361.5(LRSAM1):c.1083T>C (p.Asn361=) rs0
NM_138361.5(LRSAM1):c.1160-7C>T rs377144291
NM_138361.5(LRSAM1):c.1225C>G (p.Gln409Glu) rs149540339
NM_138361.5(LRSAM1):c.1351G>A (p.Ala451Thr) rs0
NM_138361.5(LRSAM1):c.1440T>G (p.Thr480=) rs0
NM_138361.5(LRSAM1):c.1518G>A (p.Glu506=) rs0
NM_138361.5(LRSAM1):c.1573C>A (p.Arg525=) rs1442123730
NM_138361.5(LRSAM1):c.1581A>G (p.Glu527=) rs0
NM_138361.5(LRSAM1):c.175-18G>T rs0
NM_138361.5(LRSAM1):c.1830+20A>G rs0
NM_138361.5(LRSAM1):c.1974T>C (p.Ser658=) rs140336379
NM_138361.5(LRSAM1):c.2028C>G (p.Val676=) rs566890772
NM_138361.5(LRSAM1):c.2046+16T>C rs0
NM_138361.5(LRSAM1):c.2139C>T (p.Ile713=) rs373990000
NM_138361.5(LRSAM1):c.268G>A (p.Asp90Asn) rs117692127
NM_138361.5(LRSAM1):c.330C>T (p.Asn110=) rs0
NM_138361.5(LRSAM1):c.406+15G>T rs201808404
NM_138361.5(LRSAM1):c.51C>T (p.Arg17=) rs0
NM_138361.5(LRSAM1):c.528+15G>C rs0
NM_138361.5(LRSAM1):c.619+11G>A rs370502826
NM_138361.5(LRSAM1):c.751-8C>G rs367823841
NM_138361.5(LRSAM1):c.822G>A (p.Leu274=) rs146079606
NM_138361.5(LRSAM1):c.846C>G (p.Thr282=) rs548270854
NM_138361.5(LRSAM1):c.954C>T (p.Asn318=) rs200527839
NM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300

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