ClinVar Miner

List of variants in gene LRSAM1 studied for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 212
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HGVS dbSNP gnomAD frequency
NM_001005373.4(LRSAM1):c.903+38T>C rs1539569 0.77244
NM_001005373.4(LRSAM1):c.751-233A>G rs2249649 0.75243
NM_001005373.4(LRSAM1):c.780+133_780+134dup rs3053020 0.75222
NM_001005373.4(LRSAM1):c.952A>G (p.Asn318Asp) rs1539567 0.75123
NM_001005373.4(LRSAM1):c.1423-208_1423-207insA rs5900748 0.75076
NM_001005373.4(LRSAM1):c.1912+5A>C rs2248822 0.74956
NM_001005373.4(LRSAM1):c.252+71T>C rs2243903 0.61373
NM_001005373.4(LRSAM1):c.528+275A>G rs2254437 0.61318
NM_001005373.4(LRSAM1):c.249C>T (p.Ile83=) rs2243906 0.61095
NM_001005373.4(LRSAM1):c.321+38T>C rs2243767 0.61049
NM_001005373.4(LRSAM1):c.1348-211G>A rs2245677 0.45758
NM_001005373.4(LRSAM1):c.1088+340G>A rs2246600 0.43954
NM_001005373.4(LRSAM1):c.1159+246G>C rs7875862 0.43944
NM_001005373.4(LRSAM1):c.1699-83A>T rs2249052 0.43881
NM_001005373.4(LRSAM1):c.1259+252T>A rs2243464 0.43841
NM_001005373.4(LRSAM1):c.904-9C>T rs1539568 0.43695
NM_001005373.4(LRSAM1):c.750+33G>A rs2250267 0.43666
NM_001005373.4(LRSAM1):c.72+73G>T rs2244218 0.43578
NM_001005373.4(LRSAM1):c.72+172C>G rs2243509 0.41194
NM_001005373.4(LRSAM1):c.406+218G>A rs2254541 0.27801
NM_001005373.4(LRSAM1):c.1348-108C>A rs10987668 0.20070
NM_001005373.4(LRSAM1):c.321+182G>A rs7849608 0.17570
NM_001005373.4(LRSAM1):c.1503+216C>T rs10987669 0.10954
NM_001005373.4(LRSAM1):c.620-183G>A rs10819296 0.10912
NM_001005373.4(LRSAM1):c.1088+114C>T rs10819297 0.10818
NM_001005373.4(LRSAM1):c.406+286G>A rs7858206 0.10184
NM_001005373.4(LRSAM1):c.175-186G>T rs4837154 0.10178
NM_001005373.4(LRSAM1):c.2047-39C>T rs10987671 0.10030
NM_001005373.4(LRSAM1):c.-33+51C>T rs3808831 0.09987
NM_001005373.4(LRSAM1):c.1912+43G>A rs3802358 0.09725
NM_001005373.4(LRSAM1):c.73-30A>C rs7851331 0.05459
NM_001005373.4(LRSAM1):c.751-247A>C rs79065754 0.05164
NM_001005373.4(LRSAM1):c.1348-34G>A rs55828933 0.03966
NM_001005373.4(LRSAM1):c.620-296C>T rs79075038 0.03777
NM_001005373.4(LRSAM1):c.548C>T (p.Ser183Leu) rs75690855 0.03450
NM_001005373.4(LRSAM1):c.903+93A>G rs56131876 0.02821
NM_001005373.4(LRSAM1):c.904-67C>T rs56160932 0.02702
NM_001005373.4(LRSAM1):c.1913-189G>A rs115498195 0.02491
NM_001005373.4(LRSAM1):c.528+133G>C rs75130020 0.02468
NM_001005373.4(LRSAM1):c.322-269G>A rs138506891 0.02413
NM_001005373.4(LRSAM1):c.1913-249C>T rs76376186 0.02346
NM_001005373.4(LRSAM1):c.2046+32C>T rs7019372 0.02179
NM_001005373.4(LRSAM1):c.1830+6C>T rs75171318 0.01846
NM_001005373.4(LRSAM1):c.780+80G>T rs61016254 0.01714
NM_001005373.4(LRSAM1):c.1160-125G>T rs73590855 0.01711
NM_001005373.4(LRSAM1):c.1699-168G>A rs76576041 0.01485
NM_001005373.4(LRSAM1):c.252+51G>A rs142333739 0.01473
NM_001005373.4(LRSAM1):c.-33+445G>T rs141227166 0.01469
NM_001005373.4(LRSAM1):c.129+128C>T rs113996142 0.01469
NM_001005373.4(LRSAM1):c.1600-152G>A rs142343329 0.01123
NM_001005373.4(LRSAM1):c.252+134T>C rs145947414 0.01040
NM_001005373.4(LRSAM1):c.253-98G>A rs115106486 0.00910
NM_001005373.4(LRSAM1):c.1422+129C>T rs113022868 0.00866
NM_001005373.4(LRSAM1):c.1831-58A>G rs185352597 0.00831
NM_001005373.4(LRSAM1):c.904-48G>A rs143901401 0.00802
NM_001005373.4(LRSAM1):c.1831-66C>T rs137858765 0.00800
NM_001005373.4(LRSAM1):c.529-246C>T rs190101207 0.00798
NM_001005373.4(LRSAM1):c.2157C>T (p.Ile719=) rs34768188 0.00793
NM_001005373.4(LRSAM1):c.1913-167_1913-163del rs202170304 0.00768
NM_001005373.4(LRSAM1):c.322-51G>A rs182192023 0.00619
NM_001005373.4(LRSAM1):c.1368G>A (p.Ala456=) rs34426300 0.00573
NM_001005373.4(LRSAM1):c.750+313G>A rs184257921 0.00383
NM_001005373.4(LRSAM1):c.1044-313G>A rs183022187 0.00380
NM_001005373.4(LRSAM1):c.1600-140C>T rs370404396 0.00344
NM_001005373.4(LRSAM1):c.1975G>A (p.Val659Met) rs140786088 0.00342
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300 0.00328
NM_001005373.4(LRSAM1):c.72+45C>T rs74876850 0.00321
NM_001005373.4(LRSAM1):c.*57G>A rs549468112 0.00273
NM_001005373.4(LRSAM1):c.1830+36C>T rs3802361 0.00149
NM_001005373.4(LRSAM1):c.268G>A (p.Asp90Asn) rs117692127 0.00133
NM_001005373.4(LRSAM1):c.406+24G>A rs117528271 0.00133
NM_001005373.4(LRSAM1):c.406+23C>T rs117197911 0.00129
NM_001005373.4(LRSAM1):c.469A>G (p.Ile157Val) rs150292099 0.00105
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.407-35T>G rs141724747 0.00063
NM_001005373.4(LRSAM1):c.814C>T (p.Arg272Trp) rs149456922 0.00063
NM_001005373.4(LRSAM1):c.414G>A (p.Lys138=) rs151323851 0.00056
NM_001005373.4(LRSAM1):c.1860C>T (p.His620=) rs147734401 0.00054
NM_001005373.4(LRSAM1):c.586G>A (p.Gly196Ser) rs148059394 0.00045
NM_001005373.4(LRSAM1):c.1225C>G (p.Gln409Glu) rs149540339 0.00039
NM_001005373.4(LRSAM1):c.917T>G (p.Leu306Arg) rs140151379 0.00039
NM_001005373.4(LRSAM1):c.2111G>A (p.Arg704His) rs140808447 0.00035
NM_001005373.4(LRSAM1):c.21_41dup (p.Pro10_Lys16dup) rs760944483 0.00035
NM_001005373.4(LRSAM1):c.1950G>A (p.Thr650=) rs199887448 0.00029
NM_001005373.4(LRSAM1):c.2042G>A (p.Arg681Gln) rs143479340 0.00024
NM_001005373.4(LRSAM1):c.2139C>T (p.Ile713=) rs373990000 0.00024
NM_001005373.4(LRSAM1):c.720C>G (p.Asp240Glu) rs150820300 0.00024
NM_001005373.4(LRSAM1):c.1780C>T (p.Arg594Cys) rs150062009 0.00021
NM_001005373.4(LRSAM1):c.569G>A (p.Arg190Gln) rs142782210 0.00020
NM_001005373.4(LRSAM1):c.497C>T (p.Pro166Leu) rs142085060 0.00019
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.1088+1G>C rs765641195 0.00014
NM_001005373.4(LRSAM1):c.1199G>A (p.Arg400Gln) rs150344223 0.00014
NM_001005373.4(LRSAM1):c.62A>G (p.Gln21Arg) rs372408222 0.00014
NM_001005373.4(LRSAM1):c.1046A>G (p.Gln349Arg) rs200595164 0.00011
NM_001005373.4(LRSAM1):c.1405C>T (p.Arg469Trp) rs376468970 0.00011
NM_001005373.4(LRSAM1):c.2110C>T (p.Arg704Cys) rs150984897 0.00011
NM_001005373.4(LRSAM1):c.751-8C>G rs367823841 0.00011
NM_001005373.4(LRSAM1):c.620-3C>T rs373015900 0.00010
NM_001005373.4(LRSAM1):c.1153G>A (p.Val385Ile) rs373570877 0.00009
NM_001005373.4(LRSAM1):c.1746G>A (p.Ser582=) rs199997686 0.00009
NM_001005373.4(LRSAM1):c.480C>T (p.Asn160=) rs147205387 0.00009
NM_001005373.4(LRSAM1):c.993G>A (p.Thr331=) rs368674859 0.00009
NM_001005373.4(LRSAM1):c.1026G>T (p.Leu342=) rs367599324 0.00008
NM_001005373.4(LRSAM1):c.1027C>T (p.Leu343=) rs369353985 0.00008
NM_001005373.4(LRSAM1):c.1717C>A (p.Gln573Lys) rs150882646 0.00008
NM_001005373.4(LRSAM1):c.339G>A (p.Arg113=) rs146613642 0.00007
NM_001005373.4(LRSAM1):c.1422+6C>T rs745690669 0.00006
NM_001005373.4(LRSAM1):c.1949C>T (p.Thr650Met) rs773505699 0.00006
NM_001005373.4(LRSAM1):c.436G>A (p.Val146Met) rs555377969 0.00006
NM_001005373.4(LRSAM1):c.913C>T (p.Arg305Trp) rs376566243 0.00006
NM_001005373.4(LRSAM1):c.1347+5G>A rs368570954 0.00005
NM_001005373.4(LRSAM1):c.1588C>T (p.Arg530Trp) rs772793971 0.00005
NM_001005373.4(LRSAM1):c.*5T>A rs1447674725 0.00004
NM_001005373.4(LRSAM1):c.136T>C (p.Phe46Leu) rs546739304 0.00004
NM_001005373.4(LRSAM1):c.1382A>T (p.Gln461Leu) rs145382004 0.00004
NM_001005373.4(LRSAM1):c.1514C>T (p.Ser505Leu) rs146106537 0.00004
NM_001005373.4(LRSAM1):c.1781G>A (p.Arg594His) rs537838691 0.00004
NM_001005373.4(LRSAM1):c.1837G>A (p.Val613Ile) rs746831085 0.00004
NM_001005373.4(LRSAM1):c.1877T>G (p.Val626Gly) rs574202204 0.00004
NM_001005373.4(LRSAM1):c.2152C>T (p.Arg718Cys) rs368202093 0.00004
NM_001005373.4(LRSAM1):c.392C>T (p.Thr131Ile) rs772202137 0.00004
NM_001005373.4(LRSAM1):c.484A>G (p.Ile162Val) rs1039329590 0.00004
NM_001005373.4(LRSAM1):c.514G>A (p.Val172Ile) rs529333601 0.00004
NM_001005373.4(LRSAM1):c.685G>A (p.Glu229Lys) rs563259179 0.00004
NM_001005373.4(LRSAM1):c.962G>A (p.Arg321Gln) rs145881988 0.00004
NM_001005373.4(LRSAM1):c.1498C>T (p.Leu500Phe) rs749192098 0.00003
NM_001005373.4(LRSAM1):c.1913-1G>A rs756880678 0.00003
NM_001005373.4(LRSAM1):c.1939G>A (p.Val647Ile) rs879254326 0.00003
NM_001005373.4(LRSAM1):c.684C>T (p.Ile228=) rs376671005 0.00003
NM_001005373.4(LRSAM1):c.1043+5G>A rs780868977 0.00002
NM_001005373.4(LRSAM1):c.1714C>T (p.Arg572Cys) rs1359751742 0.00002
NM_001005373.4(LRSAM1):c.2009T>C (p.Val670Ala) rs748185533 0.00002
NM_001005373.4(LRSAM1):c.49C>T (p.Arg17Cys) rs770259167 0.00002
NM_001005373.4(LRSAM1):c.904-4del rs757987823 0.00002
NM_001005373.4(LRSAM1):c.102C>T (p.Leu34=) rs762785076 0.00001
NM_001005373.4(LRSAM1):c.1073C>T (p.Ser358Leu) rs886063457 0.00001
NM_001005373.4(LRSAM1):c.1094G>A (p.Arg365Lys) rs1381062773 0.00001
NM_001005373.4(LRSAM1):c.1161C>T (p.Ser387=) rs763903913 0.00001
NM_001005373.4(LRSAM1):c.1168C>G (p.Gln390Glu) rs1258411555 0.00001
NM_001005373.4(LRSAM1):c.1267G>A (p.Glu423Lys) rs767351229 0.00001
NM_001005373.4(LRSAM1):c.1348-6T>A rs200130803 0.00001
NM_001005373.4(LRSAM1):c.1454T>C (p.Leu485Pro) rs369939320 0.00001
NM_001005373.4(LRSAM1):c.1522C>T (p.Arg508Cys) rs375737634 0.00001
NM_001005373.4(LRSAM1):c.1589G>A (p.Arg530Gln) rs760321710 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.184G>A (p.Val62Ile) rs570688892 0.00001
NM_001005373.4(LRSAM1):c.1870C>G (p.Arg624Gly) rs375938990 0.00001
NM_001005373.4(LRSAM1):c.2019dup (p.Glu674fs) rs1315010600 0.00001
NM_001005373.4(LRSAM1):c.2146C>T (p.Arg716Cys) rs772786050 0.00001
NM_001005373.4(LRSAM1):c.261T>G (p.Asp87Glu) rs746714138 0.00001
NM_001005373.4(LRSAM1):c.362G>A (p.Arg121His) rs143910539 0.00001
NM_001005373.4(LRSAM1):c.513C>T (p.His171=) rs757426906 0.00001
NM_001005373.4(LRSAM1):c.541G>C (p.Asp181His) rs1255236822 0.00001
NM_001005373.4(LRSAM1):c.82G>T (p.Ala28Ser) rs1564248714 0.00001
NM_001005373.4(LRSAM1):c.972G>A (p.Leu324=) rs940085400 0.00001
NM_001005373.4(LRSAM1):c.1043+104C>T rs142195263
NM_001005373.4(LRSAM1):c.1043+1G>A rs373571535
NM_001005373.4(LRSAM1):c.1088+44del rs371152397
NM_001005373.4(LRSAM1):c.1088+44dup rs371152397
NM_001005373.4(LRSAM1):c.1089-212G>A
NM_001005373.4(LRSAM1):c.1203C>T (p.Leu401=) rs774735924
NM_001005373.4(LRSAM1):c.121C>G (p.Leu41Val) rs1834465235
NM_001005373.4(LRSAM1):c.1262T>A (p.Met421Lys)
NM_001005373.4(LRSAM1):c.1264G>A (p.Ala422Thr)
NM_001005373.4(LRSAM1):c.129+195dup
NM_001005373.4(LRSAM1):c.1313A>C (p.Asp438Ala)
NM_001005373.4(LRSAM1):c.1430T>C (p.Leu477Ser) rs1835920830
NM_001005373.4(LRSAM1):c.146T>C (p.Phe49Ser) rs942509436
NM_001005373.4(LRSAM1):c.1504-2A>G rs1064797013
NM_001005373.4(LRSAM1):c.153A>G (p.Thr51=)
NM_001005373.4(LRSAM1):c.1629G>A (p.Arg543=) rs752477588
NM_001005373.4(LRSAM1):c.1698A>G (p.Gln566=) rs1256215388
NM_001005373.4(LRSAM1):c.1707G>T (p.Gly569=)
NM_001005373.4(LRSAM1):c.1807A>G (p.Met603Val)
NM_001005373.4(LRSAM1):c.1831G>A (p.Val611Met) rs771783337
NM_001005373.4(LRSAM1):c.1889_1894del (p.Leu630_Ala632delinsPro) rs1564283769
NM_001005373.4(LRSAM1):c.1946C>T (p.Pro649Leu)
NM_001005373.4(LRSAM1):c.1953C>A (p.Ala651=)
NM_001005373.4(LRSAM1):c.2003_2015del (p.Leu668fs) rs876661208
NM_001005373.4(LRSAM1):c.2008G>A (p.Val670Met)
NM_001005373.4(LRSAM1):c.2011C>T (p.Gln671Ter) rs876661247
NM_001005373.4(LRSAM1):c.2046+1G>T rs1588143215
NM_001005373.4(LRSAM1):c.2050C>T (p.Gln684Ter) rs879254056
NM_001005373.4(LRSAM1):c.2068T>C (p.Cys690Arg) rs879253755
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.253G>A (p.Val85Ile) rs765537196
NM_001005373.4(LRSAM1):c.30C>T (p.Pro10=) rs1588090324
NM_001005373.4(LRSAM1):c.321+162_321+163dup rs373307015
NM_001005373.4(LRSAM1):c.321+163del rs373307015
NM_001005373.4(LRSAM1):c.321+163dup rs373307015
NM_001005373.4(LRSAM1):c.369T>G (p.Ile123Met)
NM_001005373.4(LRSAM1):c.406+5G>A rs1834732559
NM_001005373.4(LRSAM1):c.448C>T (p.Arg150Ter)
NM_001005373.4(LRSAM1):c.528+5A>G
NM_001005373.4(LRSAM1):c.529-2A>G rs1835011473
NM_001005373.4(LRSAM1):c.549G>A (p.Ser183=) rs1459773762
NM_001005373.4(LRSAM1):c.593C>A (p.Ala198Glu) rs758867006
NM_001005373.4(LRSAM1):c.595G>A (p.Ala199Thr) rs745326217
NM_001005373.4(LRSAM1):c.618A>G (p.Lys206=)
NM_001005373.4(LRSAM1):c.620-9C>G rs1588114537
NM_001005373.4(LRSAM1):c.643C>A (p.Pro215Thr) rs765389102
NM_001005373.4(LRSAM1):c.709G>A (p.Gly237Arg)
NM_001005373.4(LRSAM1):c.736G>A (p.Glu246Lys) rs2132048180
NM_001005373.4(LRSAM1):c.750+345del rs111823259
NM_001005373.4(LRSAM1):c.781G>A (p.Glu261Lys) rs2132062152
NM_001005373.4(LRSAM1):c.818G>A (p.Arg273His) rs368088593
NM_001005373.4(LRSAM1):c.917T>C (p.Leu306Pro) rs140151379

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