ClinVar Miner

List of variants in gene LRSAM1 studied for Inborn genetic diseases

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Total variants: 155
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HGVS dbSNP gnomAD frequency
NM_001005373.4(LRSAM1):c.2157C>T (p.Ile719=) rs34768188 0.00793
NM_001005373.4(LRSAM1):c.1368G>A (p.Ala456=) rs34426300 0.00573
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300 0.00328
NM_001005373.4(LRSAM1):c.268G>A (p.Asp90Asn) rs117692127 0.00133
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.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.2121G>A (p.Pro707=) rs570732998 0.00049
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.570G>A (p.Arg190=) rs545814024 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.894G>A (p.Thr298=) rs771491533 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.267C>T (p.His89=) rs148528063 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.1772C>T (p.Ala591Val) rs139344911 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.1067T>C (p.Leu356Ser) rs142958539 0.00006
NM_001005373.4(LRSAM1):c.1422+6C>T rs745690669 0.00006
NM_001005373.4(LRSAM1):c.1980G>A (p.Arg660=) rs147805183 0.00006
NM_001005373.4(LRSAM1):c.2028C>T (p.Val676=) rs566890772 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.368T>C (p.Ile123Thr) rs542497718 0.00005
NM_001005373.4(LRSAM1):c.1141C>T (p.Arg381Trp) rs763390117 0.00004
NM_001005373.4(LRSAM1):c.1353G>A (p.Ala451=) rs535634291 0.00004
NM_001005373.4(LRSAM1):c.1514C>T (p.Ser505Leu) rs146106537 0.00004
NM_001005373.4(LRSAM1):c.16C>T (p.Arg6Trp) rs140467743 0.00004
NM_001005373.4(LRSAM1):c.1757A>G (p.Tyr586Cys) rs768302528 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.1905C>G (p.Ile635Met) rs369161790 0.00004
NM_001005373.4(LRSAM1):c.2152C>T (p.Arg718Cys) rs368202093 0.00004
NM_001005373.4(LRSAM1):c.44G>A (p.Arg15Gln) rs368646898 0.00004
NM_001005373.4(LRSAM1):c.484A>G (p.Ile162Val) rs1039329590 0.00004
NM_001005373.4(LRSAM1):c.685G>A (p.Glu229Lys) rs563259179 0.00004
NM_001005373.4(LRSAM1):c.954C>T (p.Asn318=) rs200527839 0.00004
NM_001005373.4(LRSAM1):c.962G>A (p.Arg321Gln) rs145881988 0.00004
NM_001005373.4(LRSAM1):c.992C>T (p.Thr331Met) rs775480266 0.00004
NM_001005373.4(LRSAM1):c.1352C>T (p.Ala451Val) rs751593173 0.00003
NM_001005373.4(LRSAM1):c.1498C>T (p.Leu500Phe) rs749192098 0.00003
NM_001005373.4(LRSAM1):c.1660C>T (p.Arg554Trp) rs757208185 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.2062C>A (p.Leu688Ile) rs765956865 0.00003
NM_001005373.4(LRSAM1):c.498G>A (p.Pro166=) rs140809697 0.00003
NM_001005373.4(LRSAM1):c.804C>T (p.Leu268=) rs771510127 0.00003
NM_001005373.4(LRSAM1):c.1142G>A (p.Arg381Gln) rs145877456 0.00002
NM_001005373.4(LRSAM1):c.1147C>T (p.Arg383Cys) rs1006024672 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.698A>C (p.Asp233Ala) rs747872731 0.00002
NM_001005373.4(LRSAM1):c.717G>A (p.Thr239=) rs769930277 0.00002
NM_001005373.4(LRSAM1):c.835C>T (p.Arg279Trp) rs766288153 0.00002
NM_001005373.4(LRSAM1):c.840G>A (p.Glu280=) rs199947399 0.00002
NM_001005373.4(LRSAM1):c.904-4del rs757987823 0.00002
NM_001005373.4(LRSAM1):c.1011C>T (p.Ser337=) rs886063456 0.00001
NM_001005373.4(LRSAM1):c.1060G>A (p.Glu354Lys) rs773122117 0.00001
NM_001005373.4(LRSAM1):c.1076T>G (p.Leu359Arg) rs1466479388 0.00001
NM_001005373.4(LRSAM1):c.1109T>C (p.Met370Thr) rs377079293 0.00001
NM_001005373.4(LRSAM1):c.1168C>G (p.Gln390Glu) rs1258411555 0.00001
NM_001005373.4(LRSAM1):c.1236C>T (p.Asn412=) rs186139632 0.00001
NM_001005373.4(LRSAM1):c.1329C>T (p.Ile443=) rs771415278 0.00001
NM_001005373.4(LRSAM1):c.1347+3G>T rs375937623 0.00001
NM_001005373.4(LRSAM1):c.1522C>T (p.Arg508Cys) rs375737634 0.00001
NM_001005373.4(LRSAM1):c.1567C>G (p.Gln523Glu) rs1468375975 0.00001
NM_001005373.4(LRSAM1):c.1619G>T (p.Ser540Ile) rs1400819662 0.00001
NM_001005373.4(LRSAM1):c.1694del (p.Leu565fs) rs749012928 0.00001
NM_001005373.4(LRSAM1):c.1870C>G (p.Arg624Gly) rs375938990 0.00001
NM_001005373.4(LRSAM1):c.1871G>A (p.Arg624Gln) rs775743246 0.00001
NM_001005373.4(LRSAM1):c.192G>A (p.Thr64=) rs778625125 0.00001
NM_001005373.4(LRSAM1):c.1952C>T (p.Ala651Val) rs777233045 0.00001
NM_001005373.4(LRSAM1):c.2019A>G (p.Ser673=) rs1057521438 0.00001
NM_001005373.4(LRSAM1):c.2019dup (p.Glu674fs) rs1315010600 0.00001
NM_001005373.4(LRSAM1):c.2094G>A (p.Gln698=) rs752678501 0.00001
NM_001005373.4(LRSAM1):c.22C>T (p.Arg8Trp) rs752596738 0.00001
NM_001005373.4(LRSAM1):c.300G>A (p.Leu100=) rs758812956 0.00001
NM_001005373.4(LRSAM1):c.513C>T (p.His171=) rs757426906 0.00001
NM_001005373.4(LRSAM1):c.567G>A (p.Pro189=) rs761890031 0.00001
NM_001005373.4(LRSAM1):c.604C>G (p.Gln202Glu) rs746274685 0.00001
NM_001005373.4(LRSAM1):c.63G>A (p.Gln21=) rs1057521344 0.00001
NM_001005373.4(LRSAM1):c.893C>T (p.Thr298Met) rs747368361 0.00001
NM_001005373.4(LRSAM1):c.1012C>T (p.Arg338Trp)
NM_001005373.4(LRSAM1):c.1055G>T (p.Ser352Ile) rs915109407
NM_001005373.4(LRSAM1):c.1063A>G (p.Ile355Val)
NM_001005373.4(LRSAM1):c.1267G>T (p.Glu423Ter)
NM_001005373.4(LRSAM1):c.1286A>C (p.Gln429Pro)
NM_001005373.4(LRSAM1):c.1291A>T (p.Ile431Phe)
NM_001005373.4(LRSAM1):c.1312G>A (p.Asp438Asn)
NM_001005373.4(LRSAM1):c.1372G>A (p.Glu458Lys)
NM_001005373.4(LRSAM1):c.1419C>A (p.Ser473Arg) rs1345645228
NM_001005373.4(LRSAM1):c.1526G>C (p.Trp509Ser)
NM_001005373.4(LRSAM1):c.1579G>A (p.Glu527Lys)
NM_001005373.4(LRSAM1):c.1696C>A (p.Gln566Lys)
NM_001005373.4(LRSAM1):c.1705G>A (p.Gly569Arg)
NM_001005373.4(LRSAM1):c.1733T>C (p.Leu578Pro)
NM_001005373.4(LRSAM1):c.1750G>A (p.Glu584Lys)
NM_001005373.4(LRSAM1):c.1753C>G (p.His585Asp) rs1183629673
NM_001005373.4(LRSAM1):c.1756T>A (p.Tyr586Asn)
NM_001005373.4(LRSAM1):c.1831G>A (p.Val611Met) rs771783337
NM_001005373.4(LRSAM1):c.1861G>A (p.Glu621Lys)
NM_001005373.4(LRSAM1):c.1865T>C (p.Ile622Thr)
NM_001005373.4(LRSAM1):c.1870C>T (p.Arg624Trp) rs375938990
NM_001005373.4(LRSAM1):c.1873A>G (p.Arg625Gly)
NM_001005373.4(LRSAM1):c.1915C>G (p.Leu639Val)
NM_001005373.4(LRSAM1):c.1930G>A (p.Gly644Ser) rs201284198
NM_001005373.4(LRSAM1):c.1941C>G (p.Val647=) rs1000632610
NM_001005373.4(LRSAM1):c.1941C>T (p.Val647=) rs1000632610
NM_001005373.4(LRSAM1):c.1981C>T (p.Pro661Ser)
NM_001005373.4(LRSAM1):c.1987G>A (p.Ala663Thr)
NM_001005373.4(LRSAM1):c.2047-3C>T rs1588144581
NM_001005373.4(LRSAM1):c.2047-4C>T
NM_001005373.4(LRSAM1):c.2076C>A (p.His692Gln) rs753650841
NM_001005373.4(LRSAM1):c.2084G>A (p.Cys695Tyr) rs2132133868
NM_001005373.4(LRSAM1):c.2093_2104del (p.Gln698_Gln701del) rs1554763017
NM_001005373.4(LRSAM1):c.2120C>T (p.Pro707Leu) rs797044913
NM_001005373.4(LRSAM1):c.2137A>G (p.Ile713Val)
NM_001005373.4(LRSAM1):c.253G>T (p.Val85Phe)
NM_001005373.4(LRSAM1):c.349A>C (p.Met117Leu)
NM_001005373.4(LRSAM1):c.398A>G (p.Asn133Ser)
NM_001005373.4(LRSAM1):c.43C>T (p.Arg15Trp)
NM_001005373.4(LRSAM1):c.481G>A (p.Glu161Lys)
NM_001005373.4(LRSAM1):c.593C>T (p.Ala198Val) rs758867006
NM_001005373.4(LRSAM1):c.620-7_620-6del rs1468536961
NM_001005373.4(LRSAM1):c.641C>T (p.Pro214Leu)
NM_001005373.4(LRSAM1):c.643C>A (p.Pro215Thr) rs765389102
NM_001005373.4(LRSAM1):c.643C>G (p.Pro215Ala) rs765389102
NM_001005373.4(LRSAM1):c.684C>G (p.Ile228Met) rs376671005
NM_001005373.4(LRSAM1):c.706G>A (p.Asp236Asn) rs551957380
NM_001005373.4(LRSAM1):c.728C>T (p.Ser243Leu)
NM_001005373.4(LRSAM1):c.815G>A (p.Arg272Gln)
NM_001005373.4(LRSAM1):c.831del (p.Gln278fs)
NM_001005373.4(LRSAM1):c.89C>A (p.Ala30Glu) rs769070078

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