ClinVar Miner

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

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Total variants: 77
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HGVS dbSNP
NM_138361.5(LRSAM1):c.1016dup (p.Gln340fs) rs0
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.1142G>A (p.Arg381Gln) rs145877456
NM_138361.5(LRSAM1):c.1160-7C>T rs377144291
NM_138361.5(LRSAM1):c.1198C>T (p.Arg400Trp) rs0
NM_138361.5(LRSAM1):c.1225C>G (p.Gln409Glu) rs149540339
NM_138361.5(LRSAM1):c.1261A>G (p.Met421Val) rs0
NM_138361.5(LRSAM1):c.1351G>A (p.Ala451Thr) rs0
NM_138361.5(LRSAM1):c.1368G>A (p.Ala456=) rs34426300
NM_138361.5(LRSAM1):c.1406G>A (p.Arg469Gln) rs369439346
NM_138361.5(LRSAM1):c.1419C>A (p.Ser473Arg) rs0
NM_138361.5(LRSAM1):c.1422+42_1422+43del 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.1601C>T (p.Thr534Met) rs141542114
NM_138361.5(LRSAM1):c.1619G>T (p.Ser540Ile) rs1400819662
NM_138361.5(LRSAM1):c.1714C>T (p.Arg572Cys) rs0
NM_138361.5(LRSAM1):c.175-18G>T rs0
NM_138361.5(LRSAM1):c.1753C>G (p.His585Asp) rs0
NM_138361.5(LRSAM1):c.1775A>C (p.His592Pro) rs1039132247
NM_138361.5(LRSAM1):c.1781G>A (p.Arg594His) rs537838691
NM_138361.5(LRSAM1):c.1815del (p.Asp607fs) rs0
NM_138361.5(LRSAM1):c.1830+20A>G rs0
NM_138361.5(LRSAM1):c.1830+6C>T rs75171318
NM_138361.5(LRSAM1):c.1837G>A (p.Val613Ile) rs746831085
NM_138361.5(LRSAM1):c.1912+5A>C rs2248822
NM_138361.5(LRSAM1):c.1913-1G>A rs756880678
NM_138361.5(LRSAM1):c.1936G>T (p.Val646Phe) rs0
NM_138361.5(LRSAM1):c.1974T>C (p.Ser658=) rs140336379
NM_138361.5(LRSAM1):c.2005G>T (p.Glu669Ter) rs1588143112
NM_138361.5(LRSAM1):c.2008del (p.Val670fs) rs0
NM_138361.5(LRSAM1):c.2019dup (p.Glu674fs) rs1315010600
NM_138361.5(LRSAM1):c.2028C>G (p.Val676=) rs566890772
NM_138361.5(LRSAM1):c.2046+16T>C rs0
NM_138361.5(LRSAM1):c.2046+1G>T rs1588143215
NM_138361.5(LRSAM1):c.2047-1G>A rs1564287793
NM_138361.5(LRSAM1):c.2087G>A (p.Cys696Tyr) rs1588144651
NM_138361.5(LRSAM1):c.2108T>C (p.Leu703Pro) rs1588144691
NM_138361.5(LRSAM1):c.2120C>T (p.Pro707Leu) rs797044913
NM_138361.5(LRSAM1):c.2121_2122dup (p.Leu708fs) rs786200930
NM_138361.5(LRSAM1):c.2134_2145del (p.Asp712_Gln715del) rs1588144737
NM_138361.5(LRSAM1):c.2139C>T (p.Ile713=) rs373990000
NM_138361.5(LRSAM1):c.2157C>T (p.Ile719=) rs34768188
NM_138361.5(LRSAM1):c.249C>T (p.Ile83=) rs2243906
NM_138361.5(LRSAM1):c.253-9C>A rs0
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.362G>A (p.Arg121His) rs0
NM_138361.5(LRSAM1):c.392C>T (p.Thr131Ile) rs772202137
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.548C>T (p.Ser183Leu) rs75690855
NM_138361.5(LRSAM1):c.586G>A (p.Gly196Ser) rs148059394
NM_138361.5(LRSAM1):c.604C>G (p.Gln202Glu) rs746274685
NM_138361.5(LRSAM1):c.619+11G>A rs370502826
NM_138361.5(LRSAM1):c.685G>A (p.Glu229Lys) rs563259179
NM_138361.5(LRSAM1):c.750+2T>G rs0
NM_138361.5(LRSAM1):c.750+33G>A rs2250267
NM_138361.5(LRSAM1):c.751-8C>G rs367823841
NM_138361.5(LRSAM1):c.814C>T (p.Arg272Trp) rs149456922
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.86G>C (p.Gly29Ala) rs142846298
NM_138361.5(LRSAM1):c.903+38T>C rs1539569
NM_138361.5(LRSAM1):c.904-2A>G rs0
NM_138361.5(LRSAM1):c.904-4del rs757987823
NM_138361.5(LRSAM1):c.904-9C>T rs1539568
NM_138361.5(LRSAM1):c.94G>A (p.Asp32Asn) rs150784835
NM_138361.5(LRSAM1):c.952A>G (p.Asn318Asp) rs1539567
NM_138361.5(LRSAM1):c.954C>T (p.Asn318=) rs200527839
NM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300
NM_138361.5(LRSAM1):c.992C>T (p.Thr331Met) rs0

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