ClinVar Miner

List of variants in gene LRSAM1 studied for Charcot-Marie-Tooth disease

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Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_001005373.4(LRSAM1):c.903+38T>C rs1539569 0.77244
NM_001005373.4(LRSAM1):c.952A>G (p.Asn318Asp) rs1539567 0.75123
NM_001005373.4(LRSAM1):c.1912+5A>C rs2248822 0.74956
NM_001005373.4(LRSAM1):c.249C>T (p.Ile83=) rs2243906 0.60584
NM_001005373.4(LRSAM1):c.904-9C>T rs1539568 0.43224
NM_001005373.4(LRSAM1):c.750+33G>A rs2250267 0.43195
NM_001005373.4(LRSAM1):c.548C>T (p.Ser183Leu) rs75690855 0.03450
NM_001005373.4(LRSAM1):c.1830+6C>T rs75171318 0.01846
NM_001005373.4(LRSAM1):c.2157C>T (p.Ile719=) rs34768188 0.00728
NM_001005373.4(LRSAM1):c.1368G>A (p.Ala456=) rs34426300 0.00527
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300 0.00328
NM_001005373.4(LRSAM1):c.268G>A (p.Asp90Asn) rs117692127 0.00133
NM_001005373.4(LRSAM1):c.1974T>C (p.Ser658=) rs140336379 0.00065
NM_001005373.4(LRSAM1):c.406+15G>T rs201808404 0.00064
NM_001005373.4(LRSAM1):c.814C>T (p.Arg272Trp) rs149456922 0.00063
NM_001005373.4(LRSAM1):c.586G>A (p.Gly196Ser) rs148059394 0.00045
NM_001005373.4(LRSAM1):c.1225C>G (p.Gln409Glu) rs149540339 0.00038
NM_001005373.4(LRSAM1):c.1406G>A (p.Arg469Gln) rs369439346 0.00031
NM_001005373.4(LRSAM1):c.2139C>T (p.Ile713=) rs373990000 0.00024
NM_001005373.4(LRSAM1):c.94G>A (p.Asp32Asn) rs150784835 0.00017
NM_001005373.4(LRSAM1):c.1601C>T (p.Thr534Met) rs141542114 0.00015
NM_001005373.4(LRSAM1):c.751-8C>G rs367823841 0.00012
NM_001005373.4(LRSAM1):c.1830+20A>G rs199932024 0.00009
NM_001005373.4(LRSAM1):c.2046+16T>C rs753575542 0.00009
NM_001005373.4(LRSAM1):c.685G>A (p.Glu229Lys) rs563259179 0.00008
NM_001005373.4(LRSAM1):c.1781G>A (p.Arg594His) rs537838691 0.00005
NM_001005373.4(LRSAM1):c.1837G>A (p.Val613Ile) rs746831085 0.00004
NM_001005373.4(LRSAM1):c.392C>T (p.Thr131Ile) rs772202137 0.00004
NM_001005373.4(LRSAM1):c.822G>A (p.Leu274=) rs146079606 0.00004
NM_001005373.4(LRSAM1):c.954C>T (p.Asn318=) rs200527839 0.00004
NM_001005373.4(LRSAM1):c.992C>T (p.Thr331Met) rs775480266 0.00004
NM_001005373.4(LRSAM1):c.1913-1G>A rs756880678 0.00003
NM_001005373.4(LRSAM1):c.619+11G>A rs370502826 0.00003
NM_001005373.4(LRSAM1):c.1142G>A (p.Arg381Gln) rs145877456 0.00002
NM_001005373.4(LRSAM1):c.1714C>T (p.Arg572Cys) rs1359751742 0.00002
NM_001005373.4(LRSAM1):c.528+15G>C rs758039190 0.00002
NM_001005373.4(LRSAM1):c.904-4del rs757987823 0.00002
NM_001005373.4(LRSAM1):c.1160-7C>T rs377144291 0.00001
NM_001005373.4(LRSAM1):c.1198C>T (p.Arg400Trp) rs749575647 0.00001
NM_001005373.4(LRSAM1):c.1419C>A (p.Ser473Arg) rs1345645228 0.00001
NM_001005373.4(LRSAM1):c.1518G>A (p.Glu506=) rs199703262 0.00001
NM_001005373.4(LRSAM1):c.1619G>T (p.Ser540Ile) rs1400819662 0.00001
NM_001005373.4(LRSAM1):c.1815del (p.Asp607fs) rs747130246 0.00001
NM_001005373.4(LRSAM1):c.2019dup (p.Glu674fs) rs1315010600 0.00001
NM_001005373.4(LRSAM1):c.330C>T (p.Asn110=) rs374848673 0.00001
NM_001005373.4(LRSAM1):c.362G>A (p.Arg121His) rs143910539 0.00001
NM_001005373.4(LRSAM1):c.604C>G (p.Gln202Glu) rs746274685 0.00001
NM_001005373.4(LRSAM1):c.846C>G (p.Thr282=) rs548270854 0.00001
NM_001005373.4(LRSAM1):c.1016dup (p.Gln340fs) rs1835476174
NM_001005373.4(LRSAM1):c.1026_1027delinsTT (p.Leu342_Leu343=) rs1554757292
NM_001005373.4(LRSAM1):c.1044-20T>C rs1835521444
NM_001005373.4(LRSAM1):c.1083T>C (p.Asn361=) rs1835524969
NM_001005373.4(LRSAM1):c.1261A>G (p.Met421Val) rs1835780785
NM_001005373.4(LRSAM1):c.1351G>A (p.Ala451Thr) rs202166023
NM_001005373.4(LRSAM1):c.1422+42_1422+43del rs3053015
NM_001005373.4(LRSAM1):c.1440T>G (p.Thr480=) rs756804646
NM_001005373.4(LRSAM1):c.1573C>A (p.Arg525=) rs1442123730
NM_001005373.4(LRSAM1):c.1581A>G (p.Glu527=) rs1835985595
NM_001005373.4(LRSAM1):c.175-18G>T rs752028583
NM_001005373.4(LRSAM1):c.1753C>G (p.His585Asp) rs1183629673
NM_001005373.4(LRSAM1):c.1775A>C (p.His592Pro) rs1039132247
NM_001005373.4(LRSAM1):c.1936G>T (p.Val646Phe) rs748358043
NM_001005373.4(LRSAM1):c.2005G>T (p.Glu669Ter) rs1588143112
NM_001005373.4(LRSAM1):c.2008del (p.Val670fs) rs1836372698
NM_001005373.4(LRSAM1):c.2028C>G (p.Val676=) rs566890772
NM_001005373.4(LRSAM1):c.2046+1G>T rs1588143215
NM_001005373.4(LRSAM1):c.2047-1G>A rs1564287793
NM_001005373.4(LRSAM1):c.2087G>A (p.Cys696Tyr) rs1588144651
NM_001005373.4(LRSAM1):c.2108T>C (p.Leu703Pro) rs1588144691
NM_001005373.4(LRSAM1):c.2120C>T (p.Pro707Leu) rs797044913
NM_001005373.4(LRSAM1):c.2134_2145del (p.Asp712_Gln715del) rs1588144737
NM_001005373.4(LRSAM1):c.253-9C>A rs199925705
NM_001005373.4(LRSAM1):c.51C>T (p.Arg17=) rs1834446417
NM_001005373.4(LRSAM1):c.750+2T>G rs76153575
NM_001005373.4(LRSAM1):c.86G>C (p.Gly29Ala) rs142846298
NM_001005373.4(LRSAM1):c.904-2A>G rs1171946884

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