ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 2P by Illumina Clinical Services Laboratory,Illumina

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Total variants: 82
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HGVS dbSNP
NM_138361.5(LRSAM1):c.*121C>T
NM_138361.5(LRSAM1):c.*238G>A rs886063459
NM_138361.5(LRSAM1):c.*350C>A rs764119919
NM_138361.5(LRSAM1):c.*356G>A
NM_138361.5(LRSAM1):c.*370C>T
NM_138361.5(LRSAM1):c.*392G>T
NM_138361.5(LRSAM1):c.*501C>T rs886063460
NM_138361.5(LRSAM1):c.*552A>G
NM_138361.5(LRSAM1):c.*57G>A rs549468112
NM_138361.5(LRSAM1):c.*588T>A rs886063461
NM_138361.5(LRSAM1):c.*590T>C rs139260397
NM_138361.5(LRSAM1):c.*597T>G rs751523580
NM_138361.5(LRSAM1):c.-127C>A
NM_138361.5(LRSAM1):c.-309A>G rs886063453
NM_138361.5(LRSAM1):c.-321A>G
NM_138361.5(LRSAM1):c.-338G>A rs886063451
NM_138361.5(LRSAM1):c.-35C>T
NM_138361.5(LRSAM1):c.-401C>T rs886063450
NM_138361.5(LRSAM1):c.-458A>G rs760403428
NM_138361.5(LRSAM1):c.-561C>T
NM_138361.5(LRSAM1):c.-567G>A
NM_138361.5(LRSAM1):c.-575C>T rs116498902
NM_138361.5(LRSAM1):c.-78C>T rs886063454
NM_138361.5(LRSAM1):c.1035C>T (p.Asp345=) rs766701971
NM_138361.5(LRSAM1):c.1044-9T>C rs59501881
NM_138361.5(LRSAM1):c.1073C>T (p.Ser358Leu) rs886063457
NM_138361.5(LRSAM1):c.1141C>T (p.Arg381Trp)
NM_138361.5(LRSAM1):c.1153G>A (p.Val385Ile) rs373570877
NM_138361.5(LRSAM1):c.1159+13A>T
NM_138361.5(LRSAM1):c.1199G>A (p.Arg400Gln) rs150344223
NM_138361.5(LRSAM1):c.1225C>G (p.Gln409Glu) rs149540339
NM_138361.5(LRSAM1):c.1347+6C>T rs1588128875
NM_138361.5(LRSAM1):c.1351G>A (p.Ala451Thr)
NM_138361.5(LRSAM1):c.1368G>A (p.Ala456=) rs34426300
NM_138361.5(LRSAM1):c.1382A>T (p.Gln461Leu) rs145382004
NM_138361.5(LRSAM1):c.1422+15T>A
NM_138361.5(LRSAM1):c.1504-5C>G rs377190920
NM_138361.5(LRSAM1):c.1515G>A (p.Ser505=) rs140066362
NM_138361.5(LRSAM1):c.1601C>T (p.Thr534Met) rs141542114
NM_138361.5(LRSAM1):c.1660C>T (p.Arg554Trp) rs757208185
NM_138361.5(LRSAM1):c.1699-3C>T
NM_138361.5(LRSAM1):c.1746G>A (p.Ser582=) rs199997686
NM_138361.5(LRSAM1):c.1772C>T (p.Ala591Val) rs139344911
NM_138361.5(LRSAM1):c.1830+6C>T rs75171318
NM_138361.5(LRSAM1):c.1834G>A (p.Gly612Ser)
NM_138361.5(LRSAM1):c.1912+5A>C rs2248822
NM_138361.5(LRSAM1):c.1930G>T (p.Gly644Cys) rs201284198
NM_138361.5(LRSAM1):c.1950G>A (p.Thr650=) rs199887448
NM_138361.5(LRSAM1):c.1974T>C (p.Ser658=) rs140336379
NM_138361.5(LRSAM1):c.1975G>A (p.Val659Met) rs140786088
NM_138361.5(LRSAM1):c.2110C>T (p.Arg704Cys) rs150984897
NM_138361.5(LRSAM1):c.2111G>A (p.Arg704His) rs140808447
NM_138361.5(LRSAM1):c.2115C>T (p.Thr705=)
NM_138361.5(LRSAM1):c.2134G>A (p.Asp712Asn)
NM_138361.5(LRSAM1):c.249C>T (p.Ile83=) rs2243906
NM_138361.5(LRSAM1):c.268G>A (p.Asp90Asn) rs117692127
NM_138361.5(LRSAM1):c.284C>T (p.Ala95Val) rs570248730
NM_138361.5(LRSAM1):c.390G>C (p.Gln130His)
NM_138361.5(LRSAM1):c.406+15G>T rs201808404
NM_138361.5(LRSAM1):c.458G>A (p.Arg153His) rs368689811
NM_138361.5(LRSAM1):c.480C>T (p.Asn160=) rs147205387
NM_138361.5(LRSAM1):c.528G>A (p.Glu176=) rs1564255509
NM_138361.5(LRSAM1):c.548C>T (p.Ser183Leu) rs75690855
NM_138361.5(LRSAM1):c.569G>A (p.Arg190Gln) rs142782210
NM_138361.5(LRSAM1):c.586G>A (p.Gly196Ser) rs148059394
NM_138361.5(LRSAM1):c.593C>A (p.Ala198Glu) rs758867006
NM_138361.5(LRSAM1):c.598A>G (p.Ile200Val)
NM_138361.5(LRSAM1):c.615C>G (p.Cys205Trp) rs886063455
NM_138361.5(LRSAM1):c.619+13C>T rs148704769
NM_138361.5(LRSAM1):c.620-3C>T rs373015900
NM_138361.5(LRSAM1):c.643C>A (p.Pro215Thr) rs765389102
NM_138361.5(LRSAM1):c.685G>A (p.Glu229Lys) rs563259179
NM_138361.5(LRSAM1):c.706G>A (p.Asp236Asn)
NM_138361.5(LRSAM1):c.751-8C>G rs367823841
NM_138361.5(LRSAM1):c.894G>A (p.Thr298=) rs771491533
NM_138361.5(LRSAM1):c.904-9C>T rs1539568
NM_138361.5(LRSAM1):c.917T>G (p.Leu306Arg) rs140151379
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.972G>A (p.Leu324=) rs940085400

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