ClinVar Miner

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

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 164
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HGVS dbSNP
NC_000009.11:g.(130264298_130265053)_(130265271_?)del
NC_000009.11:g.(?_130263279)_(130263432_?)del
NC_000009.11:g.(?_130265053)_(130265780_?)del
NM_138361.5(LRSAM1):c.1013G>A (p.Arg338Gln) rs762000052
NM_138361.5(LRSAM1):c.1026_1027delinsTT (p.Leu342_Leu343=) rs1554757292
NM_138361.5(LRSAM1):c.1035C>G (p.Asp345Glu)
NM_138361.5(LRSAM1):c.1037A>G (p.Asn346Ser)
NM_138361.5(LRSAM1):c.103G>A (p.Asp35Asn) rs551183702
NM_138361.5(LRSAM1):c.1043+2T>G
NM_138361.5(LRSAM1):c.1043+5G>A rs780868977
NM_138361.5(LRSAM1):c.1044-9T>C rs59501881
NM_138361.5(LRSAM1):c.1060G>A (p.Glu354Lys)
NM_138361.5(LRSAM1):c.1067T>C (p.Leu356Ser) rs142958539
NM_138361.5(LRSAM1):c.1076T>G (p.Leu359Arg) rs1466479388
NM_138361.5(LRSAM1):c.1088+1G>C
NM_138361.5(LRSAM1):c.1091T>C (p.Ile364Thr)
NM_138361.5(LRSAM1):c.1102C>G (p.Gln368Glu)
NM_138361.5(LRSAM1):c.1109T>C (p.Met370Thr) rs377079293
NM_138361.5(LRSAM1):c.1142G>A (p.Arg381Gln)
NM_138361.5(LRSAM1):c.1145G>A (p.Arg382Gln)
NM_138361.5(LRSAM1):c.1153G>A (p.Val385Ile)
NM_138361.5(LRSAM1):c.1160C>A (p.Ser387Tyr) rs758094270
NM_138361.5(LRSAM1):c.1162G>A (p.Ala388Thr)
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.122T>C (p.Leu41Pro)
NM_138361.5(LRSAM1):c.1236C>A (p.Asn412Lys)
NM_138361.5(LRSAM1):c.1236C>T (p.Asn412=) rs186139632
NM_138361.5(LRSAM1):c.1264G>T (p.Ala422Ser)
NM_138361.5(LRSAM1):c.1279C>T (p.Arg427Ter) rs138226428
NM_138361.5(LRSAM1):c.1329C>T (p.Ile443=) rs771415278
NM_138361.5(LRSAM1):c.1347+6C>T
NM_138361.5(LRSAM1):c.1348-1G>A rs747659617
NM_138361.5(LRSAM1):c.1352C>T (p.Ala451Val) rs751593173
NM_138361.5(LRSAM1):c.1367C>T (p.Ala456Val) rs1299851938
NM_138361.5(LRSAM1):c.1368G>A (p.Ala456=) rs34426300
NM_138361.5(LRSAM1):c.13T>C (p.Phe5Leu)
NM_138361.5(LRSAM1):c.1422+6C>T rs745690669
NM_138361.5(LRSAM1):c.1491_1492AG[1] (p.Glu498fs)
NM_138361.5(LRSAM1):c.1498C>T (p.Leu500Phe)
NM_138361.5(LRSAM1):c.1504-5C>G rs377190920
NM_138361.5(LRSAM1):c.1510A>T (p.Ile504Phe) rs1472578658
NM_138361.5(LRSAM1):c.1537T>C (p.Ser513Pro) rs748161826
NM_138361.5(LRSAM1):c.1588C>T (p.Arg530Trp)
NM_138361.5(LRSAM1):c.1602G>A (p.Thr534=) rs766032321
NM_138361.5(LRSAM1):c.1619G>T (p.Ser540Ile) rs1400819662
NM_138361.5(LRSAM1):c.1632G>A (p.Gln544=) rs762712712
NM_138361.5(LRSAM1):c.1660C>T (p.Arg554Trp) rs757208185
NM_138361.5(LRSAM1):c.1694del (p.Leu565fs) rs749012928
NM_138361.5(LRSAM1):c.1717C>A (p.Gln573Lys) rs150882646
NM_138361.5(LRSAM1):c.1747G>A (p.Ala583Thr) rs1202628332
NM_138361.5(LRSAM1):c.1772C>T (p.Ala591Val) rs139344911
NM_138361.5(LRSAM1):c.1780C>T (p.Arg594Cys) rs150062009
NM_138361.5(LRSAM1):c.17G>A (p.Arg6Gln)
NM_138361.5(LRSAM1):c.1802G>C (p.Ser601Thr)
NM_138361.5(LRSAM1):c.1806A>T (p.Gln602His) rs1462342285
NM_138361.5(LRSAM1):c.1830+6C>T rs75171318
NM_138361.5(LRSAM1):c.1836C>T (p.Gly612=) rs577254396
NM_138361.5(LRSAM1):c.1837G>A (p.Val613Ile)
NM_138361.5(LRSAM1):c.184G>A (p.Val62Ile) rs570688892
NM_138361.5(LRSAM1):c.1860C>T (p.His620=) rs147734401
NM_138361.5(LRSAM1):c.1877T>G (p.Val626Gly) rs574202204
NM_138361.5(LRSAM1):c.1892A>G (p.Asp631Gly) rs1564283787
NM_138361.5(LRSAM1):c.1905C>G (p.Ile635Met)
NM_138361.5(LRSAM1):c.1912+5A>C rs2248822
NM_138361.5(LRSAM1):c.1913-1G>A rs756880678
NM_138361.5(LRSAM1):c.1914G>A (p.Glu638=) rs387907032
NM_138361.5(LRSAM1):c.1921C>T (p.Pro641Ser)
NM_138361.5(LRSAM1):c.192G>A (p.Thr64=) rs778625125
NM_138361.5(LRSAM1):c.1930G>T (p.Gly644Cys) rs201284198
NM_138361.5(LRSAM1):c.1936G>A (p.Val646Ile) rs748358043
NM_138361.5(LRSAM1):c.1939G>A (p.Val647Ile) rs879254326
NM_138361.5(LRSAM1):c.1941C>T (p.Val647=) rs1000632610
NM_138361.5(LRSAM1):c.1950G>A (p.Thr650=) rs199887448
NM_138361.5(LRSAM1):c.1952C>T (p.Ala651Val)
NM_138361.5(LRSAM1):c.1957dup (p.Gln653fs)
NM_138361.5(LRSAM1):c.1963C>T (p.Pro655Ser) rs1291622809
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.1980G>A (p.Arg660=) rs147805183
NM_138361.5(LRSAM1):c.2003_2015del (p.Leu668fs) rs876661208
NM_138361.5(LRSAM1):c.2019dup (p.Glu674fs)
NM_138361.5(LRSAM1):c.2028C>T (p.Val676=) rs566890772
NM_138361.5(LRSAM1):c.2036T>C (p.Leu679Pro) rs1564286814
NM_138361.5(LRSAM1):c.2041C>T (p.Arg681Trp)
NM_138361.5(LRSAM1):c.2042G>A (p.Arg681Gln) rs143479340
NM_138361.5(LRSAM1):c.2042G>C (p.Arg681Pro)
NM_138361.5(LRSAM1):c.2043_2044dup (p.Glu682fs) rs1554762671
NM_138361.5(LRSAM1):c.2046+1G>T
NM_138361.5(LRSAM1):c.2047-1G>A rs1564287793
NM_138361.5(LRSAM1):c.2062C>A (p.Leu688Ile) rs765956865
NM_138361.5(LRSAM1):c.2068T>C (p.Cys690Arg) rs879253755
NM_138361.5(LRSAM1):c.206C>G (p.Ser69Cys) rs942116544
NM_138361.5(LRSAM1):c.2076C>A (p.His692Gln) rs753650841
NM_138361.5(LRSAM1):c.2080T>C (p.Cys694Arg) rs759312530
NM_138361.5(LRSAM1):c.2081G>A (p.Cys694Tyr) rs886041051
NM_138361.5(LRSAM1):c.2087G>A (p.Cys696Tyr)
NM_138361.5(LRSAM1):c.2093_2104del (p.Gln698_Gln701del) rs1554763017
NM_138361.5(LRSAM1):c.2094G>A (p.Gln698=) rs752678501
NM_138361.5(LRSAM1):c.2095T>C (p.Cys699Arg) rs1341295542
NM_138361.5(LRSAM1):c.2102del (p.Gln701fs) rs1554763035
NM_138361.5(LRSAM1):c.2104_2133dup (p.Pro702_Gln711dup) rs1564287871
NM_138361.5(LRSAM1):c.2108T>C (p.Leu703Pro)
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.2119C>T (p.Pro707Ser)
NM_138361.5(LRSAM1):c.2121G>A (p.Pro707=) rs570732998
NM_138361.5(LRSAM1):c.2121_2122dup (p.Leu708fs) rs786200930
NM_138361.5(LRSAM1):c.2139C>T (p.Ile713=) rs373990000
NM_138361.5(LRSAM1):c.2146C>T (p.Arg716Cys)
NM_138361.5(LRSAM1):c.2152C>T (p.Arg718Cys)
NM_138361.5(LRSAM1):c.2153G>A (p.Arg718His) rs764890552
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.252+1G>A rs1554753670
NM_138361.5(LRSAM1):c.267C>T (p.His89=) rs148528063
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.300G>A (p.Leu100=)
NM_138361.5(LRSAM1):c.375C>A (p.Asn125Lys)
NM_138361.5(LRSAM1):c.382C>A (p.Gln128Lys)
NM_138361.5(LRSAM1):c.388C>T (p.Gln130Ter) rs1554754342
NM_138361.5(LRSAM1):c.392C>T (p.Thr131Ile) rs772202137
NM_138361.5(LRSAM1):c.436G>C (p.Val146Leu) rs555377969
NM_138361.5(LRSAM1):c.44G>A (p.Arg15Gln)
NM_138361.5(LRSAM1):c.469A>G (p.Ile157Val) rs150292099
NM_138361.5(LRSAM1):c.497C>T (p.Pro166Leu) rs142085060
NM_138361.5(LRSAM1):c.498G>A (p.Pro166=) rs140809697
NM_138361.5(LRSAM1):c.513C>T (p.His171=) rs757426906
NM_138361.5(LRSAM1):c.528G>A (p.Glu176=) rs1564255509
NM_138361.5(LRSAM1):c.529-6C>T rs754162095
NM_138361.5(LRSAM1):c.548C>T (p.Ser183Leu) rs75690855
NM_138361.5(LRSAM1):c.563C>T (p.Pro188Leu) rs138830549
NM_138361.5(LRSAM1):c.567G>A (p.Pro189=) rs761890031
NM_138361.5(LRSAM1):c.569G>A (p.Arg190Gln) rs142782210
NM_138361.5(LRSAM1):c.570G>A (p.Arg190=) rs545814024
NM_138361.5(LRSAM1):c.580G>A (p.Gly194Ser) rs1193320677
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.593C>T (p.Ala198Val) rs758867006
NM_138361.5(LRSAM1):c.604C>G (p.Gln202Glu) rs746274685
NM_138361.5(LRSAM1):c.620-3C>T rs373015900
NM_138361.5(LRSAM1):c.636C>G (p.Tyr212Ter) rs1345228128
NM_138361.5(LRSAM1):c.643C>A (p.Pro215Thr) rs765389102
NM_138361.5(LRSAM1):c.64A>T (p.Met22Leu)
NM_138361.5(LRSAM1):c.694C>T (p.Arg232Trp)
NM_138361.5(LRSAM1):c.695G>A (p.Arg232Gln)
NM_138361.5(LRSAM1):c.717G>A (p.Thr239=) rs769930277
NM_138361.5(LRSAM1):c.751-8C>G rs367823841
NM_138361.5(LRSAM1):c.783A>G (p.Glu261=) rs1344070586
NM_138361.5(LRSAM1):c.82G>T (p.Ala28Ser) rs1564248714
NM_138361.5(LRSAM1):c.840G>A (p.Glu280=) rs199947399
NM_138361.5(LRSAM1):c.847_1088+563del
NM_138361.5(LRSAM1):c.893C>T (p.Thr298Met)
NM_138361.5(LRSAM1):c.894G>A (p.Thr298=) rs771491533
NM_138361.5(LRSAM1):c.89C>A (p.Ala30Glu) rs769070078
NM_138361.5(LRSAM1):c.904-9C>T rs1539568
NM_138361.5(LRSAM1):c.913C>T (p.Arg305Trp) rs376566243
NM_138361.5(LRSAM1):c.91G>A (p.Asp31Asn) rs1564248731
NM_138361.5(LRSAM1):c.937C>T (p.His313Tyr)
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.962G>A (p.Arg321Gln) rs145881988
NM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300

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