ClinVar Miner

List of variants in gene LRSAM1 studied for Charcot-Marie-Tooth disease axonal type 2P

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 290
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HGVS dbSNP
NC_000009.11:g.(130264298_130265053)_(130265271_?)del
NC_000009.12:g.(?_127454518)_(127502909_?)dup
NC_000009.12:g.(?_127461163)_(127473941_?)del
NC_000009.12:g.(?_127501000)_(127501153_?)del
NC_000009.12:g.(?_127502764)_(127502909_?)del
NC_000009.12:g.(?_127502774)_(127503501_?)del
NM_001190723.3(LRSAM1):c.1423-1517_1423-1516del rs1588132672
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.1013G>A (p.Arg338Gln) rs762000052
NM_138361.5(LRSAM1):c.1026_1027delinsTT (p.Leu342_Leu343=) rs1554757292
NM_138361.5(LRSAM1):c.102C>T (p.Leu34=) rs762785076
NM_138361.5(LRSAM1):c.1035C>G (p.Asp345Glu) rs766701971
NM_138361.5(LRSAM1):c.1035C>T (p.Asp345=) rs766701971
NM_138361.5(LRSAM1):c.1037A>G (p.Asn346Ser) rs1188237904
NM_138361.5(LRSAM1):c.1037_1040del (p.Asn346fs) rs1588121150
NM_138361.5(LRSAM1):c.103G>A (p.Asp35Asn) rs551183702
NM_138361.5(LRSAM1):c.1043+1G>A
NM_138361.5(LRSAM1):c.1043+2T>G rs746455518
NM_138361.5(LRSAM1):c.1043+5G>A rs780868977
NM_138361.5(LRSAM1):c.1044-9T>C rs59501881
NM_138361.5(LRSAM1):c.1046A>G (p.Gln349Arg) rs200595164
NM_138361.5(LRSAM1):c.1060G>A (p.Glu354Lys) rs773122117
NM_138361.5(LRSAM1):c.1067T>C (p.Leu356Ser) rs142958539
NM_138361.5(LRSAM1):c.1073C>T (p.Ser358Leu) rs886063457
NM_138361.5(LRSAM1):c.1076T>G (p.Leu359Arg) rs1466479388
NM_138361.5(LRSAM1):c.1088+1G>C rs765641195
NM_138361.5(LRSAM1):c.1091T>C (p.Ile364Thr) rs1588123900
NM_138361.5(LRSAM1):c.109del (p.Ser37fs)
NM_138361.5(LRSAM1):c.1102C>G (p.Gln368Glu) rs776814240
NM_138361.5(LRSAM1):c.1109T>C (p.Met370Thr) rs377079293
NM_138361.5(LRSAM1):c.1131T>A (p.Thr377=) rs141912153
NM_138361.5(LRSAM1):c.1141C>T (p.Arg381Trp)
NM_138361.5(LRSAM1):c.1142G>A (p.Arg381Gln) rs145877456
NM_138361.5(LRSAM1):c.1145G>A (p.Arg382Gln) rs369596799
NM_138361.5(LRSAM1):c.1147C>T (p.Arg383Cys)
NM_138361.5(LRSAM1):c.1152C>T (p.Asp384=) rs760074620
NM_138361.5(LRSAM1):c.1153G>A (p.Val385Ile) rs373570877
NM_138361.5(LRSAM1):c.1159+13A>T
NM_138361.5(LRSAM1):c.1160C>A (p.Ser387Tyr) rs758094270
NM_138361.5(LRSAM1):c.1162G>A (p.Ala388Thr) rs138715791
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) rs762731732
NM_138361.5(LRSAM1):c.1236C>A (p.Asn412Lys) rs186139632
NM_138361.5(LRSAM1):c.1236C>T (p.Asn412=) rs186139632
NM_138361.5(LRSAM1):c.1264G>T (p.Ala422Ser) rs372452916
NM_138361.5(LRSAM1):c.1270A>G (p.Met424Val)
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.1332C>A (p.Ser444Arg)
NM_138361.5(LRSAM1):c.1333del (p.Gln445fs)
NM_138361.5(LRSAM1):c.1347+3G>T
NM_138361.5(LRSAM1):c.1347+6C>T rs1588128875
NM_138361.5(LRSAM1):c.1348-1G>A rs747659617
NM_138361.5(LRSAM1):c.1348-6T>A
NM_138361.5(LRSAM1):c.1351G>A (p.Ala451Thr)
NM_138361.5(LRSAM1):c.1352C>T (p.Ala451Val) rs751593173
NM_138361.5(LRSAM1):c.1353G>A (p.Ala451=) rs535634291
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.1382A>T (p.Gln461Leu) rs145382004
NM_138361.5(LRSAM1):c.13T>C (p.Phe5Leu) rs201473713
NM_138361.5(LRSAM1):c.1405C>T (p.Arg469Trp)
NM_138361.5(LRSAM1):c.1406G>A (p.Arg469Gln) rs369439346
NM_138361.5(LRSAM1):c.1422+15T>A
NM_138361.5(LRSAM1):c.1422+6C>T rs745690669
NM_138361.5(LRSAM1):c.1430T>C (p.Leu477Ser)
NM_138361.5(LRSAM1):c.1498C>T (p.Leu500Phe) rs749192098
NM_138361.5(LRSAM1):c.1504-5C>G rs377190920
NM_138361.5(LRSAM1):c.1510A>T (p.Ile504Phe) rs1472578658
NM_138361.5(LRSAM1):c.1515G>A (p.Ser505=) rs140066362
NM_138361.5(LRSAM1):c.1522C>T (p.Arg508Cys)
NM_138361.5(LRSAM1):c.1537T>C (p.Ser513Pro) rs748161826
NM_138361.5(LRSAM1):c.1541T>A (p.Leu514Gln)
NM_138361.5(LRSAM1):c.1544T>A (p.Leu515His)
NM_138361.5(LRSAM1):c.1588C>T (p.Arg530Trp) rs772793971
NM_138361.5(LRSAM1):c.1589G>A (p.Arg530Gln) rs760321710
NM_138361.5(LRSAM1):c.1599+9_1599+10del rs1588134360
NM_138361.5(LRSAM1):c.1601C>T (p.Thr534Met) rs141542114
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.1660C>T (p.Arg554Trp) rs757208185
NM_138361.5(LRSAM1):c.1694del (p.Leu565fs) rs749012928
NM_138361.5(LRSAM1):c.1698A>G (p.Gln566=)
NM_138361.5(LRSAM1):c.1699-3C>T
NM_138361.5(LRSAM1):c.16C>T (p.Arg6Trp)
NM_138361.5(LRSAM1):c.1714C>T (p.Arg572Cys)
NM_138361.5(LRSAM1):c.1715G>A (p.Arg572His)
NM_138361.5(LRSAM1):c.1717C>A (p.Gln573Lys) rs150882646
NM_138361.5(LRSAM1):c.1730T>C (p.Leu577Pro)
NM_138361.5(LRSAM1):c.173A>G (p.Lys58Arg)
NM_138361.5(LRSAM1):c.1746G>A (p.Ser582=) rs199997686
NM_138361.5(LRSAM1):c.1747G>A (p.Ala583Thr) rs1202628332
NM_138361.5(LRSAM1):c.1757A>G (p.Tyr586Cys)
NM_138361.5(LRSAM1):c.176T>C (p.Val59Ala)
NM_138361.5(LRSAM1):c.1772C>T (p.Ala591Val) rs139344911
NM_138361.5(LRSAM1):c.1773_1774delinsAA (p.His592Asn)
NM_138361.5(LRSAM1):c.1780C>T (p.Arg594Cys) rs150062009
NM_138361.5(LRSAM1):c.1781G>A (p.Arg594His) rs537838691
NM_138361.5(LRSAM1):c.1789C>T (p.Leu597=) rs1588137639
NM_138361.5(LRSAM1):c.17G>A (p.Arg6Gln) rs778740625
NM_138361.5(LRSAM1):c.1802G>C (p.Ser601Thr) rs201137230
NM_138361.5(LRSAM1):c.1806A>T (p.Gln602His) rs1462342285
NM_138361.5(LRSAM1):c.1815del (p.Asp607fs)
NM_138361.5(LRSAM1):c.1819G>T (p.Asp607Tyr)
NM_138361.5(LRSAM1):c.1830+6C>T rs75171318
NM_138361.5(LRSAM1):c.1831G>A (p.Val611Met)
NM_138361.5(LRSAM1):c.1834G>A (p.Gly612Ser)
NM_138361.5(LRSAM1):c.1836C>T (p.Gly612=) rs577254396
NM_138361.5(LRSAM1):c.1837G>A (p.Val613Ile) rs746831085
NM_138361.5(LRSAM1):c.1849G>T (p.Gly617Cys)
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.1870C>G (p.Arg624Gly) rs375938990
NM_138361.5(LRSAM1):c.1870C>T (p.Arg624Trp)
NM_138361.5(LRSAM1):c.1871G>A (p.Arg624Gln)
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) rs369161790
NM_138361.5(LRSAM1):c.1912+10C>T rs1473393318
NM_138361.5(LRSAM1):c.1912+4_1912+5delinsTC
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) rs1479286608
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.1949C>T (p.Thr650Met)
NM_138361.5(LRSAM1):c.1950G>A (p.Thr650=) rs199887448
NM_138361.5(LRSAM1):c.1952C>T (p.Ala651Val) rs777233045
NM_138361.5(LRSAM1):c.1957dup (p.Gln653fs) rs775965001
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.1978_1979dup (p.Pro661fs)
NM_138361.5(LRSAM1):c.1980G>A (p.Arg660=) rs147805183
NM_138361.5(LRSAM1):c.1993C>G (p.Pro665Ala)
NM_138361.5(LRSAM1):c.2003_2015del (p.Leu668fs) rs876661208
NM_138361.5(LRSAM1):c.2005G>T (p.Glu669Ter) rs1588143112
NM_138361.5(LRSAM1):c.2009T>C (p.Val670Ala)
NM_138361.5(LRSAM1):c.2019dup (p.Glu674fs) rs1315010600
NM_138361.5(LRSAM1):c.2028C>G (p.Val676=) rs566890772
NM_138361.5(LRSAM1):c.2028C>T (p.Val676=) rs566890772
NM_138361.5(LRSAM1):c.2029_2046+7del
NM_138361.5(LRSAM1):c.2036T>C (p.Leu679Pro) rs1564286814
NM_138361.5(LRSAM1):c.2041C>T (p.Arg681Trp) rs773899723
NM_138361.5(LRSAM1):c.2042G>A (p.Arg681Gln) rs143479340
NM_138361.5(LRSAM1):c.2042G>C (p.Arg681Pro) rs143479340
NM_138361.5(LRSAM1):c.2043_2044dup (p.Glu682fs) rs1554762671
NM_138361.5(LRSAM1):c.2046G>A (p.Glu682=)
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) rs1588144651
NM_138361.5(LRSAM1):c.2093_2104del 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) rs1588144691
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.2119C>T (p.Pro707Ser) rs1588144707
NM_138361.5(LRSAM1):c.2120C>T (p.Pro707Leu) rs797044913
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.2134G>A (p.Asp712Asn)
NM_138361.5(LRSAM1):c.2139C>T (p.Ile713=) rs373990000
NM_138361.5(LRSAM1):c.2146C>T (p.Arg716Cys) rs772786050
NM_138361.5(LRSAM1):c.2152C>T (p.Arg718Cys) rs368202093
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.2161_2163del (p.His721del)
NM_138361.5(LRSAM1):c.21_41dup (p.Pro10_Lys16dup)
NM_138361.5(LRSAM1):c.249C>T (p.Ile83=) rs2243906
NM_138361.5(LRSAM1):c.252+10C>T rs765686374
NM_138361.5(LRSAM1):c.252+1G>A rs1554753670
NM_138361.5(LRSAM1):c.253-9C>T rs199925705
NM_138361.5(LRSAM1):c.253G>A (p.Val85Ile)
NM_138361.5(LRSAM1):c.259G>T (p.Asp87Tyr)
NM_138361.5(LRSAM1):c.268G>A (p.Asp90Asn) rs117692127
NM_138361.5(LRSAM1):c.274C>A (p.Gln92Lys)
NM_138361.5(LRSAM1):c.284C>T (p.Ala95Val) rs570248730
NM_138361.5(LRSAM1):c.300G>A (p.Leu100=) rs758812956
NM_138361.5(LRSAM1):c.350T>C (p.Met117Thr) rs201772539
NM_138361.5(LRSAM1):c.368T>C (p.Ile123Thr)
NM_138361.5(LRSAM1):c.375C>A (p.Asn125Lys) rs779873656
NM_138361.5(LRSAM1):c.382C>A (p.Gln128Lys) rs1168470052
NM_138361.5(LRSAM1):c.388C>T (p.Gln130Ter) rs1554754342
NM_138361.5(LRSAM1):c.390G>C (p.Gln130His)
NM_138361.5(LRSAM1):c.392C>T (p.Thr131Ile) rs772202137
NM_138361.5(LRSAM1):c.406+15G>T rs201808404
NM_138361.5(LRSAM1):c.414G>A (p.Lys138=) rs151323851
NM_138361.5(LRSAM1):c.436G>C (p.Val146Leu) rs555377969
NM_138361.5(LRSAM1):c.44G>A (p.Arg15Gln) rs368646898
NM_138361.5(LRSAM1):c.458G>A (p.Arg153His) rs368689811
NM_138361.5(LRSAM1):c.469A>G (p.Ile157Val) rs150292099
NM_138361.5(LRSAM1):c.480C>T (p.Asn160=) rs147205387
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.546C>T (p.Ala182=) rs956107977
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.568C>T (p.Arg190Trp)
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.598A>G (p.Ile200Val)
NM_138361.5(LRSAM1):c.5C>T (p.Pro2Leu)
NM_138361.5(LRSAM1):c.604C>G (p.Gln202Glu) rs746274685
NM_138361.5(LRSAM1):c.615C>G (p.Cys205Trp) rs886063455
NM_138361.5(LRSAM1):c.619+13C>T rs148704769
NM_138361.5(LRSAM1):c.619+14G>A rs770398029
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) rs769236666
NM_138361.5(LRSAM1):c.676G>A (p.Asp226Asn)
NM_138361.5(LRSAM1):c.685G>A (p.Glu229Lys) rs563259179
NM_138361.5(LRSAM1):c.694C>T (p.Arg232Trp) rs754527468
NM_138361.5(LRSAM1):c.695G>A (p.Arg232Gln) rs778692919
NM_138361.5(LRSAM1):c.6G>A (p.Pro2=) rs572330792
NM_138361.5(LRSAM1):c.706G>A (p.Asp236Asn)
NM_138361.5(LRSAM1):c.716C>T (p.Thr239Met)
NM_138361.5(LRSAM1):c.717G>A (p.Thr239=) rs769930277
NM_138361.5(LRSAM1):c.751-8C>G rs367823841
NM_138361.5(LRSAM1):c.775A>T (p.Arg259Trp)
NM_138361.5(LRSAM1):c.783A>G (p.Glu261=) rs1344070586
NM_138361.5(LRSAM1):c.786G>A (p.Gln262=) rs748439646
NM_138361.5(LRSAM1):c.792G>A (p.Met264Ile)
NM_138361.5(LRSAM1):c.814C>T (p.Arg272Trp) rs149456922
NM_138361.5(LRSAM1):c.818G>A (p.Arg273His)
NM_138361.5(LRSAM1):c.822G>A (p.Leu274=) rs146079606
NM_138361.5(LRSAM1):c.82G>T (p.Ala28Ser) rs1564248714
NM_138361.5(LRSAM1):c.846C>G (p.Thr282=) rs548270854
NM_138361.5(LRSAM1):c.847_1088+563del
NM_138361.5(LRSAM1):c.849G>A (p.Gln283=) rs375636993
NM_138361.5(LRSAM1):c.850C>T (p.Leu284Phe)
NM_138361.5(LRSAM1):c.893C>T (p.Thr298Met) rs747368361
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.917T>G (p.Leu306Arg) rs140151379
NM_138361.5(LRSAM1):c.91G>A (p.Asp31Asn) rs1564248731
NM_138361.5(LRSAM1):c.937C>T (p.His313Tyr) rs1588120809
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.962G>A (p.Arg321Gln) rs145881988
NM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300
NM_138361.5(LRSAM1):c.968G>A (p.Arg323Gln)
NM_138361.5(LRSAM1):c.972G>A (p.Leu324=) rs940085400
NM_138361.5(LRSAM1):c.98T>G (p.Ile33Ser)

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