ClinVar Miner

List of variants in gene SGPL1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 258
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HGVS dbSNP gnomAD frequency
NM_003901.4(SGPL1):c.564C>T (p.Ile188=) rs827255 0.98569
NM_003901.4(SGPL1):c.1566+32T>G rs923177 0.74750
NM_003901.4(SGPL1):c.262-44T>C rs2171157 0.34012
NM_003901.4(SGPL1):c.1298+112C>T rs10762410 0.33922
NM_003901.4(SGPL1):c.1298+156C>T rs10823632 0.33909
NM_003901.4(SGPL1):c.410-115A>T rs2297842 0.33627
NM_003901.4(SGPL1):c.942C>T (p.Val314=) rs865832 0.16117
NM_003901.4(SGPL1):c.61G>T (p.Val21Leu) rs12770335 0.09643
NM_003901.4(SGPL1):c.487-228C>T rs10823629 0.09106
NM_003901.4(SGPL1):c.616-48G>A rs41305999 0.06026
NM_003901.4(SGPL1):c.487-95G>A rs112777083 0.05788
NM_003901.4(SGPL1):c.410-161A>T rs113290175 0.05787
NM_003901.4(SGPL1):c.615+217G>A rs80337807 0.05787
NM_003901.4(SGPL1):c.262-194A>G rs11596997 0.05777
NM_003901.4(SGPL1):c.321A>G (p.Lys107=) rs11597050 0.05777
NM_003901.4(SGPL1):c.1059+77C>T rs113285001 0.05610
NM_003901.4(SGPL1):c.810+29G>A rs75121822 0.05317
NM_003901.4(SGPL1):c.723C>T (p.Ala241=) rs827249 0.04400
NM_003901.4(SGPL1):c.193+92G>A rs114988069 0.01798
NM_003901.4(SGPL1):c.1693C>T (p.Pro565Ser) rs77130902 0.00410
NM_003901.4(SGPL1):c.1060-13A>T rs540445141 0.00092
NM_003901.4(SGPL1):c.409+8G>A rs371801869 0.00058
NM_003901.4(SGPL1):c.1567-20C>T rs373724233 0.00048
NM_003901.4(SGPL1):c.1067A>G (p.Tyr356Cys) rs147860288 0.00036
NM_003901.4(SGPL1):c.44A>G (p.Tyr15Cys) rs188194665 0.00036
NM_003901.4(SGPL1):c.684G>C (p.Lys228Asn) rs191033522 0.00034
NM_003901.4(SGPL1):c.1059+17A>T rs374784953 0.00029
NM_003901.4(SGPL1):c.6T>C (p.Pro2=) rs550928228 0.00016
NM_003901.4(SGPL1):c.1121A>G (p.Tyr374Cys) rs139751906 0.00013
NM_003901.4(SGPL1):c.1132G>A (p.Val378Ile) rs369763767 0.00012
NM_003901.4(SGPL1):c.153G>A (p.Leu51=) rs375707600 0.00012
NM_003901.4(SGPL1):c.1366C>T (p.Arg456Cys) rs778595060 0.00011
NM_003901.4(SGPL1):c.766A>G (p.Ile256Val) rs759865429 0.00010
NM_003901.4(SGPL1):c.267A>T (p.Gln89His) rs749176382 0.00008
NM_003901.4(SGPL1):c.1204G>A (p.Ala402Thr) rs761684028 0.00006
NM_003901.4(SGPL1):c.705-13C>T rs139455250 0.00005
NM_003901.4(SGPL1):c.262-5T>C rs768762140 0.00004
NM_003901.4(SGPL1):c.1299-10T>G rs1187103079 0.00002
NM_003901.4(SGPL1):c.1401G>A (p.Met467Ile) rs374732188 0.00002
NM_003901.4(SGPL1):c.1101T>C (p.Ser367=) rs972818538 0.00001
NM_003901.4(SGPL1):c.1149G>A (p.Gln383=) rs1446446826 0.00001
NM_003901.4(SGPL1):c.1242C>T (p.Asn414=) rs374154203 0.00001
NM_003901.4(SGPL1):c.1247A>G (p.Tyr416Cys) rs779485098 0.00001
NM_003901.4(SGPL1):c.1341A>G (p.Gln447=) rs765579152 0.00001
NM_003901.4(SGPL1):c.1483C>T (p.Arg495Ter) rs374024951 0.00001
NM_003901.4(SGPL1):c.28-15C>T rs756573931 0.00001
NM_003901.4(SGPL1):c.463A>G (p.Lys155Glu) rs567868498 0.00001
NM_003901.4(SGPL1):c.544C>T (p.Arg182Cys) rs772949427 0.00001
NM_003901.4(SGPL1):c.800T>C (p.Val267Ala) rs1359864276 0.00001
NM_003901.4(SGPL1):c.880G>A (p.Val294Ile) rs567829989 0.00001
NM_003901.4(SGPL1):c.969C>T (p.Ile323=) rs1239103117 0.00001
NC_000010.10:g.(?_72628082)_(72637092_?)dup
NM_003901.4(SGPL1):c.1006C>T (p.Pro336Ser)
NM_003901.4(SGPL1):c.1018C>T (p.Arg340Trp)
NM_003901.4(SGPL1):c.1019G>A (p.Arg340Gln)
NM_003901.4(SGPL1):c.1020G>A (p.Arg340=)
NM_003901.4(SGPL1):c.1044A>T (p.Ser348=)
NM_003901.4(SGPL1):c.1059+12A>C
NM_003901.4(SGPL1):c.1059+8A>G
NM_003901.4(SGPL1):c.1060-3C>T
NM_003901.4(SGPL1):c.1060-6C>T
NM_003901.4(SGPL1):c.1063G>A (p.Gly355Ser)
NM_003901.4(SGPL1):c.1079G>T (p.Gly360Val)
NM_003901.4(SGPL1):c.1086A>G (p.Ser362=)
NM_003901.4(SGPL1):c.1087T>C (p.Leu363=)
NM_003901.4(SGPL1):c.1098T>C (p.Tyr366=)
NM_003901.4(SGPL1):c.1116G>A (p.Arg372=)
NM_003901.4(SGPL1):c.1134C>T (p.Val378=)
NM_003901.4(SGPL1):c.1140A>G (p.Thr380=)
NM_003901.4(SGPL1):c.1167C>T (p.Ser389=)
NM_003901.4(SGPL1):c.1173C>T (p.Thr391=)
NM_003901.4(SGPL1):c.1174A>G (p.Ile392Val)
NM_003901.4(SGPL1):c.1176C>T (p.Ile392=)
NM_003901.4(SGPL1):c.1185A>G (p.Ser395=)
NM_003901.4(SGPL1):c.1186C>T (p.Arg396Trp) rs774877305
NM_003901.4(SGPL1):c.1203C>T (p.Ser401=)
NM_003901.4(SGPL1):c.1233C>T (p.Phe411=)
NM_003901.4(SGPL1):c.1261A>G (p.Lys421Glu)
NM_003901.4(SGPL1):c.1266_1267del (p.Gln422fs)
NM_003901.4(SGPL1):c.1283G>A (p.Arg428His)
NM_003901.4(SGPL1):c.1287C>T (p.Phe429=)
NM_003901.4(SGPL1):c.1288C>T (p.Leu430Phe)
NM_003901.4(SGPL1):c.1298+10G>A
NM_003901.4(SGPL1):c.1298+13G>T
NM_003901.4(SGPL1):c.1298+14A>G
NM_003901.4(SGPL1):c.1298+20G>A
NM_003901.4(SGPL1):c.1298+20G>C
NM_003901.4(SGPL1):c.1299-10_1299-9del rs3998628
NM_003901.4(SGPL1):c.1299-9dup
NM_003901.4(SGPL1):c.1305A>G (p.Glu435=)
NM_003901.4(SGPL1):c.1313A>C (p.Lys438Thr)
NM_003901.4(SGPL1):c.1317C>T (p.Gly439=)
NM_003901.4(SGPL1):c.1329T>C (p.Phe443=)
NM_003901.4(SGPL1):c.132A>G (p.Ala44=)
NM_003901.4(SGPL1):c.1340A>C (p.Gln447Pro)
NM_003901.4(SGPL1):c.134G>A (p.Trp45Ter)
NM_003901.4(SGPL1):c.1365C>T (p.Ser455=)
NM_003901.4(SGPL1):c.1368T>A (p.Arg456=)
NM_003901.4(SGPL1):c.1385G>A (p.Arg462Gln)
NM_003901.4(SGPL1):c.1385G>T (p.Arg462Leu)
NM_003901.4(SGPL1):c.1389A>G (p.Leu463=)
NM_003901.4(SGPL1):c.1396C>T (p.Leu466=)
NM_003901.4(SGPL1):c.1399A>G (p.Met467Val)
NM_003901.4(SGPL1):c.1413G>T (p.Gly471=) rs1846370406
NM_003901.4(SGPL1):c.1422G>C (p.Leu474Phe)
NM_003901.4(SGPL1):c.142G>A (p.Val48Met)
NM_003901.4(SGPL1):c.1445+15G>C
NM_003901.4(SGPL1):c.1445+16C>T
NM_003901.4(SGPL1):c.1446-12C>T
NM_003901.4(SGPL1):c.1446-18C>G
NM_003901.4(SGPL1):c.1446-4C>T
NM_003901.4(SGPL1):c.144G>A (p.Val48=)
NM_003901.4(SGPL1):c.144G>T (p.Val48=)
NM_003901.4(SGPL1):c.1473C>T (p.His491=)
NM_003901.4(SGPL1):c.1474G>A (p.Ala492Thr) rs115923151
NM_003901.4(SGPL1):c.1474G>T (p.Ala492Ser) rs115923151
NM_003901.4(SGPL1):c.1480A>G (p.Lys494Glu)
NM_003901.4(SGPL1):c.1492A>G (p.Ile498Val)
NM_003901.4(SGPL1):c.1495C>G (p.Gln499Glu)
NM_003901.4(SGPL1):c.1497A>G (p.Gln499=)
NM_003901.4(SGPL1):c.1509C>T (p.Asp503=)
NM_003901.4(SGPL1):c.1514G>A (p.Arg505Gln)
NM_003901.4(SGPL1):c.1527T>C (p.Thr509=)
NM_003901.4(SGPL1):c.1534A>T (p.Met512Leu)
NM_003901.4(SGPL1):c.1551G>A (p.Ala517=)
NM_003901.4(SGPL1):c.1566+14dup
NM_003901.4(SGPL1):c.1566+16G>A
NM_003901.4(SGPL1):c.1566+18T>A
NM_003901.4(SGPL1):c.1566+24del
NM_003901.4(SGPL1):c.1566+24dup
NM_003901.4(SGPL1):c.1566+8C>T
NM_003901.4(SGPL1):c.1567-3T>G
NM_003901.4(SGPL1):c.1578T>C (p.Tyr526=) rs1360622388
NM_003901.4(SGPL1):c.1594A>G (p.Thr532Ala)
NM_003901.4(SGPL1):c.1626C>T (p.Ser542=)
NM_003901.4(SGPL1):c.1629A>C (p.Ser543=)
NM_003901.4(SGPL1):c.1638G>A (p.Leu546=)
NM_003901.4(SGPL1):c.1656C>T (p.Thr552=)
NM_003901.4(SGPL1):c.1657G>A (p.Asp553Asn)
NM_003901.4(SGPL1):c.165G>A (p.Trp55Ter)
NM_003901.4(SGPL1):c.1660A>G (p.Thr554Ala)
NM_003901.4(SGPL1):c.166G>T (p.Gly56Ter)
NM_003901.4(SGPL1):c.1687G>A (p.Gly563Ser)
NM_003901.4(SGPL1):c.1687G>C (p.Gly563Arg)
NM_003901.4(SGPL1):c.171T>C (p.Tyr57=)
NM_003901.4(SGPL1):c.177T>C (p.Phe59=)
NM_003901.4(SGPL1):c.182T>G (p.Phe61Cys)
NM_003901.4(SGPL1):c.184del (p.Gln62fs)
NM_003901.4(SGPL1):c.192G>C (p.Glu64Asp)
NM_003901.4(SGPL1):c.193+12G>C
NM_003901.4(SGPL1):c.193+20T>C
NM_003901.4(SGPL1):c.194-133A>T rs11594636
NM_003901.4(SGPL1):c.19C>T (p.Leu7=)
NM_003901.4(SGPL1):c.225T>C (p.Phe75=)
NM_003901.4(SGPL1):c.236G>A (p.Arg79Lys)
NM_003901.4(SGPL1):c.237G>A (p.Arg79=)
NM_003901.4(SGPL1):c.252T>C (p.Ile84=)
NM_003901.4(SGPL1):c.256C>T (p.Arg86Cys)
NM_003901.4(SGPL1):c.261+16G>T
NM_003901.4(SGPL1):c.262-13_262-12dup
NM_003901.4(SGPL1):c.27+15G>C
NM_003901.4(SGPL1):c.27+7C>A
NM_003901.4(SGPL1):c.270C>G (p.Asp90Glu)
NM_003901.4(SGPL1):c.273G>A (p.Lys91=) rs775368518
NM_003901.4(SGPL1):c.306C>T (p.Asn102=)
NM_003901.4(SGPL1):c.312A>G (p.Ser104=)
NM_003901.4(SGPL1):c.328A>G (p.Lys110Glu)
NM_003901.4(SGPL1):c.32C>T (p.Ala11Val)
NM_003901.4(SGPL1):c.333G>T (p.Glu111Asp)
NM_003901.4(SGPL1):c.366C>G (p.Ser122Arg)
NM_003901.4(SGPL1):c.367T>C (p.Ser123Pro)
NM_003901.4(SGPL1):c.396G>A (p.Glu132=)
NM_003901.4(SGPL1):c.397_401del (p.Tyr133fs)
NM_003901.4(SGPL1):c.406A>T (p.Met136Leu)
NM_003901.4(SGPL1):c.409+15A>T
NM_003901.4(SGPL1):c.410-11T>C
NM_003901.4(SGPL1):c.410-19A>C
NM_003901.4(SGPL1):c.410-20G>T
NM_003901.4(SGPL1):c.410-8C>G
NM_003901.4(SGPL1):c.411C>T (p.Asp137=)
NM_003901.4(SGPL1):c.413C>T (p.Ala138Val)
NM_003901.4(SGPL1):c.440G>C (p.Gly147Ala)
NM_003901.4(SGPL1):c.453T>C (p.Ser151=)
NM_003901.4(SGPL1):c.460G>A (p.Glu154Lys)
NM_003901.4(SGPL1):c.483G>T (p.Val161=)
NM_003901.4(SGPL1):c.486+14T>C
NM_003901.4(SGPL1):c.486+20G>A
NM_003901.4(SGPL1):c.487-11T>A
NM_003901.4(SGPL1):c.489T>C (p.Ala163=)
NM_003901.4(SGPL1):c.492T>C (p.Tyr164=)
NM_003901.4(SGPL1):c.504A>G (p.Ala168=)
NM_003901.4(SGPL1):c.513C>T (p.Asn171=)
NM_003901.4(SGPL1):c.517dup (p.Leu173fs)
NM_003901.4(SGPL1):c.534C>T (p.Phe178=)
NM_003901.4(SGPL1):c.551T>C (p.Ile184Thr)
NM_003901.4(SGPL1):c.590A>G (p.Asn197Ser)
NM_003901.4(SGPL1):c.597A>T (p.Gly199=)
NM_003901.4(SGPL1):c.606G>A (p.Ser202=)
NM_003901.4(SGPL1):c.615+15G>A
NM_003901.4(SGPL1):c.615+17G>T
NM_003901.4(SGPL1):c.615+6T>G rs2131913138
NM_003901.4(SGPL1):c.616-14C>A
NM_003901.4(SGPL1):c.616-17T>G
NM_003901.4(SGPL1):c.616-19C>T
NM_003901.4(SGPL1):c.616-1G>A
NM_003901.4(SGPL1):c.633A>G (p.Thr211=)
NM_003901.4(SGPL1):c.660A>G (p.Ala220=)
NM_003901.4(SGPL1):c.665G>A (p.Arg222Gln) rs769259446
NM_003901.4(SGPL1):c.674C>A (p.Ala225Asp)
NM_003901.4(SGPL1):c.674C>T (p.Ala225Val)
NM_003901.4(SGPL1):c.683A>C (p.Lys228Thr)
NM_003901.4(SGPL1):c.687G>A (p.Gly229=)
NM_003901.4(SGPL1):c.68C>G (p.Ser23Cys)
NM_003901.4(SGPL1):c.695C>T (p.Thr232Ile)
NM_003901.4(SGPL1):c.699A>G (p.Pro233=)
NM_003901.4(SGPL1):c.704+17G>A
NM_003901.4(SGPL1):c.704+8TG[2]
NM_003901.4(SGPL1):c.705-18C>G
NM_003901.4(SGPL1):c.705-19C>T
NM_003901.4(SGPL1):c.705-1G>A
NM_003901.4(SGPL1):c.711T>A (p.Ala237=)
NM_003901.4(SGPL1):c.72A>C (p.Thr24=)
NM_003901.4(SGPL1):c.73A>G (p.Lys25Glu)
NM_003901.4(SGPL1):c.741A>G (p.Lys247=)
NM_003901.4(SGPL1):c.746C>A (p.Ala249Asp)
NM_003901.4(SGPL1):c.769G>T (p.Val257Leu)
NM_003901.4(SGPL1):c.781T>C (p.Leu261=)
NM_003901.4(SGPL1):c.785C>T (p.Thr262Met)
NM_003901.4(SGPL1):c.790A>G (p.Met264Val) rs141665233
NM_003901.4(SGPL1):c.798G>A (p.Glu266=)
NM_003901.4(SGPL1):c.810+12T>C
NM_003901.4(SGPL1):c.810+8C>A
NM_003901.4(SGPL1):c.813A>G (p.Ala271=)
NM_003901.4(SGPL1):c.819A>G (p.Arg273=)
NM_003901.4(SGPL1):c.828C>T (p.Ile276=)
NM_003901.4(SGPL1):c.832A>G (p.Arg278Gly)
NM_003901.4(SGPL1):c.849C>T (p.Leu283=)
NM_003901.4(SGPL1):c.850G>A (p.Val284Ile)
NM_003901.4(SGPL1):c.862C>A (p.Pro288Thr)
NM_003901.4(SGPL1):c.868T>C (p.Phe290Leu)
NM_003901.4(SGPL1):c.87T>C (p.Tyr29=)
NM_003901.4(SGPL1):c.888T>A (p.Asp296Glu)
NM_003901.4(SGPL1):c.897T>C (p.Pro299=)
NM_003901.4(SGPL1):c.900A>G (p.Glu300=)
NM_003901.4(SGPL1):c.909+16G>A
NM_003901.4(SGPL1):c.909G>A (p.Lys303=)
NM_003901.4(SGPL1):c.910-16T>A
NM_003901.4(SGPL1):c.938A>G (p.His313Arg)
NM_003901.4(SGPL1):c.940G>C (p.Val314Leu) rs1846303285
NM_003901.4(SGPL1):c.943G>A (p.Asp315Asn)
NM_003901.4(SGPL1):c.945C>T (p.Asp315=)
NM_003901.4(SGPL1):c.946G>A (p.Ala316Thr)
NM_003901.4(SGPL1):c.959G>C (p.Gly320Ala)
NM_003901.4(SGPL1):c.964_966del (p.Leu322del)
NM_003901.4(SGPL1):c.966C>T (p.Leu322=)
NM_003901.4(SGPL1):c.967A>G (p.Ile323Val)
NM_003901.4(SGPL1):c.993C>G (p.Tyr331Ter) rs757042460
NM_003901.4(SGPL1):c.993C>T (p.Tyr331=)

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