ClinVar Miner

List of variants in gene CSPG4 reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 211
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HGVS dbSNP gnomAD frequency
NM_001897.5(CSPG4):c.1076G>A (p.Ser359Asn)
NM_001897.5(CSPG4):c.1078G>T (p.Val360Phe)
NM_001897.5(CSPG4):c.1085G>C (p.Gly362Ala)
NM_001897.5(CSPG4):c.10G>A (p.Gly4Arg)
NM_001897.5(CSPG4):c.1103G>A (p.Arg368Gln)
NM_001897.5(CSPG4):c.1118C>T (p.Thr373Met)
NM_001897.5(CSPG4):c.1124A>G (p.Asn375Ser)
NM_001897.5(CSPG4):c.1126A>G (p.Met376Val)
NM_001897.5(CSPG4):c.1247T>C (p.Val416Ala)
NM_001897.5(CSPG4):c.1256C>T (p.Pro419Leu)
NM_001897.5(CSPG4):c.1271T>C (p.Val424Ala)
NM_001897.5(CSPG4):c.1300A>G (p.Ile434Val)
NM_001897.5(CSPG4):c.1312G>T (p.Val438Leu)
NM_001897.5(CSPG4):c.1323G>C (p.Glu441Asp)
NM_001897.5(CSPG4):c.1324G>C (p.Gly442Arg)
NM_001897.5(CSPG4):c.1330A>G (p.Thr444Ala)
NM_001897.5(CSPG4):c.1347G>T (p.Trp449Cys)
NM_001897.5(CSPG4):c.1414G>A (p.Val472Met)
NM_001897.5(CSPG4):c.1438G>A (p.Glu480Lys)
NM_001897.5(CSPG4):c.1472G>A (p.Arg491Gln)
NM_001897.5(CSPG4):c.1486C>T (p.Leu496Phe)
NM_001897.5(CSPG4):c.1510G>T (p.Ala504Ser)
NM_001897.5(CSPG4):c.1513C>T (p.Arg505Cys)
NM_001897.5(CSPG4):c.1514G>A (p.Arg505His)
NM_001897.5(CSPG4):c.1525G>A (p.Asp509Asn)
NM_001897.5(CSPG4):c.1564G>A (p.Val522Met)
NM_001897.5(CSPG4):c.1604G>A (p.Arg535Gln)
NM_001897.5(CSPG4):c.1609G>A (p.Gly537Ser)
NM_001897.5(CSPG4):c.1649A>G (p.Asn550Ser)
NM_001897.5(CSPG4):c.1706C>T (p.Thr569Met)
NM_001897.5(CSPG4):c.1771A>G (p.Thr591Ala)
NM_001897.5(CSPG4):c.1787G>A (p.Gly596Asp)
NM_001897.5(CSPG4):c.179C>A (p.Pro60His)
NM_001897.5(CSPG4):c.1807G>A (p.Val603Met)
NM_001897.5(CSPG4):c.1813C>T (p.Arg605Cys)
NM_001897.5(CSPG4):c.1817G>A (p.Arg606Gln)
NM_001897.5(CSPG4):c.1829G>A (p.Gly610Glu)
NM_001897.5(CSPG4):c.1843G>A (p.Glu615Lys)
NM_001897.5(CSPG4):c.1891C>T (p.Arg631Cys)
NM_001897.5(CSPG4):c.1894G>A (p.Gly632Ser)
NM_001897.5(CSPG4):c.1907A>G (p.Gln636Arg)
NM_001897.5(CSPG4):c.1915A>G (p.Thr639Ala)
NM_001897.5(CSPG4):c.1930G>A (p.Asp644Asn)
NM_001897.5(CSPG4):c.1960C>G (p.Leu654Val)
NM_001897.5(CSPG4):c.1979G>A (p.Arg660Gln)
NM_001897.5(CSPG4):c.2015G>A (p.Arg672Gln)
NM_001897.5(CSPG4):c.2050G>A (p.Ala684Thr)
NM_001897.5(CSPG4):c.2063T>C (p.Val688Ala)
NM_001897.5(CSPG4):c.2077G>A (p.Val693Met)
NM_001897.5(CSPG4):c.2095G>A (p.Val699Met)
NM_001897.5(CSPG4):c.20C>T (p.Pro7Leu)
NM_001897.5(CSPG4):c.2107G>A (p.Val703Ile)
NM_001897.5(CSPG4):c.2108T>C (p.Val703Ala)
NM_001897.5(CSPG4):c.2114G>C (p.Gly705Ala)
NM_001897.5(CSPG4):c.2145G>C (p.Gln715His)
NM_001897.5(CSPG4):c.2243C>T (p.Pro748Leu)
NM_001897.5(CSPG4):c.2368G>C (p.Glu790Gln)
NM_001897.5(CSPG4):c.2380A>G (p.Thr794Ala)
NM_001897.5(CSPG4):c.2387A>T (p.Asn796Ile)
NM_001897.5(CSPG4):c.2447C>T (p.Pro816Leu)
NM_001897.5(CSPG4):c.2470G>A (p.Glu824Lys)
NM_001897.5(CSPG4):c.2485C>T (p.Pro829Ser)
NM_001897.5(CSPG4):c.2530G>T (p.Gly844Cys)
NM_001897.5(CSPG4):c.2567G>A (p.Arg856Gln)
NM_001897.5(CSPG4):c.2591G>A (p.Arg864His)
NM_001897.5(CSPG4):c.2608G>A (p.Glu870Lys)
NM_001897.5(CSPG4):c.2626C>T (p.Arg876Cys)
NM_001897.5(CSPG4):c.2638C>T (p.Pro880Ser)
NM_001897.5(CSPG4):c.2668C>A (p.Pro890Thr)
NM_001897.5(CSPG4):c.2719C>T (p.Leu907Phe)
NM_001897.5(CSPG4):c.2725G>A (p.Val909Met)
NM_001897.5(CSPG4):c.2822G>A (p.Arg941His)
NM_001897.5(CSPG4):c.293C>G (p.Thr98Ser)
NM_001897.5(CSPG4):c.3010C>T (p.Arg1004Trp)
NM_001897.5(CSPG4):c.3011G>A (p.Arg1004Gln)
NM_001897.5(CSPG4):c.3058G>A (p.Val1020Met)
NM_001897.5(CSPG4):c.305C>T (p.Thr102Met)
NM_001897.5(CSPG4):c.3124G>T (p.Val1042Leu)
NM_001897.5(CSPG4):c.3136G>A (p.Asp1046Asn)
NM_001897.5(CSPG4):c.3159C>A (p.Asp1053Glu)
NM_001897.5(CSPG4):c.3176C>A (p.Thr1059Asn)
NM_001897.5(CSPG4):c.3179G>A (p.Arg1060His)
NM_001897.5(CSPG4):c.3211G>A (p.Val1071Ile)
NM_001897.5(CSPG4):c.3298C>T (p.Arg1100Cys)
NM_001897.5(CSPG4):c.3325G>A (p.Asp1109Asn)
NM_001897.5(CSPG4):c.3326A>G (p.Asp1109Gly)
NM_001897.5(CSPG4):c.3347C>T (p.Ala1116Val)
NM_001897.5(CSPG4):c.3440C>T (p.Thr1147Met)
NM_001897.5(CSPG4):c.3536G>A (p.Arg1179Gln)
NM_001897.5(CSPG4):c.3548C>G (p.Pro1183Arg)
NM_001897.5(CSPG4):c.3553A>G (p.Thr1185Ala)
NM_001897.5(CSPG4):c.355G>T (p.Gly119Cys)
NM_001897.5(CSPG4):c.3568C>A (p.Gln1190Lys)
NM_001897.5(CSPG4):c.3580G>C (p.Asp1194His)
NM_001897.5(CSPG4):c.3592C>A (p.Leu1198Ile)
NM_001897.5(CSPG4):c.3593T>C (p.Leu1198Pro)
NM_001897.5(CSPG4):c.361G>A (p.Ala121Thr)
NM_001897.5(CSPG4):c.3643G>C (p.Val1215Leu)
NM_001897.5(CSPG4):c.365C>T (p.Thr122Met)
NM_001897.5(CSPG4):c.3667G>A (p.Asp1223Asn)
NM_001897.5(CSPG4):c.3674C>T (p.Thr1225Ile)
NM_001897.5(CSPG4):c.3682G>A (p.Val1228Met)
NM_001897.5(CSPG4):c.368T>C (p.Leu123Ser)
NM_001897.5(CSPG4):c.368T>G (p.Leu123Trp)
NM_001897.5(CSPG4):c.3706C>A (p.Leu1236Met)
NM_001897.5(CSPG4):c.3738G>C (p.Lys1246Asn)
NM_001897.5(CSPG4):c.373G>A (p.Val125Ile)
NM_001897.5(CSPG4):c.3743A>T (p.Tyr1248Phe)
NM_001897.5(CSPG4):c.3823G>A (p.Val1275Ile)
NM_001897.5(CSPG4):c.3874C>T (p.Arg1292Cys)
NM_001897.5(CSPG4):c.3901A>G (p.Ser1301Gly)
NM_001897.5(CSPG4):c.3971G>A (p.Arg1324His)
NM_001897.5(CSPG4):c.4006G>A (p.Val1336Met)
NM_001897.5(CSPG4):c.4033G>A (p.Glu1345Lys)
NM_001897.5(CSPG4):c.4085C>T (p.Ala1362Val)
NM_001897.5(CSPG4):c.4127C>G (p.Ala1376Gly)
NM_001897.5(CSPG4):c.413C>T (p.Ala138Val)
NM_001897.5(CSPG4):c.4150G>A (p.Gly1384Arg)
NM_001897.5(CSPG4):c.418C>G (p.Leu140Val)
NM_001897.5(CSPG4):c.4205A>C (p.Gln1402Pro)
NM_001897.5(CSPG4):c.4228G>A (p.Asp1410Asn)
NM_001897.5(CSPG4):c.4268G>A (p.Arg1423Lys)
NM_001897.5(CSPG4):c.4340T>C (p.Met1447Thr)
NM_001897.5(CSPG4):c.4397T>C (p.Val1466Ala)
NM_001897.5(CSPG4):c.4456G>C (p.Glu1486Gln)
NM_001897.5(CSPG4):c.4460G>C (p.Gly1487Ala)
NM_001897.5(CSPG4):c.446G>C (p.Gly149Ala)
NM_001897.5(CSPG4):c.4562T>C (p.Val1521Ala)
NM_001897.5(CSPG4):c.4576G>A (p.Ala1526Thr)
NM_001897.5(CSPG4):c.4594C>T (p.Arg1532Cys)
NM_001897.5(CSPG4):c.4625G>A (p.Gly1542Glu)
NM_001897.5(CSPG4):c.4663G>C (p.Gly1555Arg)
NM_001897.5(CSPG4):c.4676G>A (p.Arg1559His)
NM_001897.5(CSPG4):c.4741C>T (p.Leu1581Phe)
NM_001897.5(CSPG4):c.4805G>A (p.Ser1602Asn)
NM_001897.5(CSPG4):c.482G>A (p.Gly161Glu)
NM_001897.5(CSPG4):c.4831G>C (p.Ala1611Pro)
NM_001897.5(CSPG4):c.4870C>T (p.Arg1624Trp)
NM_001897.5(CSPG4):c.4943A>C (p.Gln1648Pro)
NM_001897.5(CSPG4):c.5050C>T (p.Arg1684Trp)
NM_001897.5(CSPG4):c.5051G>A (p.Arg1684Gln)
NM_001897.5(CSPG4):c.5060C>T (p.Ala1687Val)
NM_001897.5(CSPG4):c.5062G>A (p.Ala1688Thr)
NM_001897.5(CSPG4):c.5156A>G (p.Gln1719Arg)
NM_001897.5(CSPG4):c.5195A>G (p.Asn1732Ser)
NM_001897.5(CSPG4):c.5197C>A (p.Leu1733Ile)
NM_001897.5(CSPG4):c.5218C>A (p.Pro1740Thr)
NM_001897.5(CSPG4):c.521C>T (p.Thr174Ile)
NM_001897.5(CSPG4):c.5246T>C (p.Phe1749Ser)
NM_001897.5(CSPG4):c.5270G>A (p.Arg1757Gln)
NM_001897.5(CSPG4):c.5272G>A (p.Gly1758Ser)
NM_001897.5(CSPG4):c.527A>G (p.Asn176Ser)
NM_001897.5(CSPG4):c.5290G>A (p.Glu1764Lys)
NM_001897.5(CSPG4):c.5347C>A (p.Gln1783Lys)
NM_001897.5(CSPG4):c.5368G>A (p.Gly1790Ser)
NM_001897.5(CSPG4):c.5434G>A (p.Val1812Met)
NM_001897.5(CSPG4):c.5534G>A (p.Arg1845Gln)
NM_001897.5(CSPG4):c.5546C>T (p.Ala1849Val)
NM_001897.5(CSPG4):c.5624C>A (p.Ala1875Glu)
NM_001897.5(CSPG4):c.5665G>C (p.Gly1889Arg)
NM_001897.5(CSPG4):c.5675C>G (p.Thr1892Ser)
NM_001897.5(CSPG4):c.5692G>A (p.Asp1898Asn)
NM_001897.5(CSPG4):c.5707C>T (p.Arg1903Trp)
NM_001897.5(CSPG4):c.5719G>A (p.Val1907Met)
NM_001897.5(CSPG4):c.5728G>A (p.Gly1910Arg)
NM_001897.5(CSPG4):c.5872C>T (p.Arg1958Cys)
NM_001897.5(CSPG4):c.5873G>A (p.Arg1958His)
NM_001897.5(CSPG4):c.5993C>T (p.Ser1998Leu)
NM_001897.5(CSPG4):c.6051C>A (p.Phe2017Leu)
NM_001897.5(CSPG4):c.6185G>A (p.Arg2062His)
NM_001897.5(CSPG4):c.6227G>A (p.Arg2076His)
NM_001897.5(CSPG4):c.6233G>A (p.Gly2078Asp)
NM_001897.5(CSPG4):c.6277C>T (p.Arg2093Cys)
NM_001897.5(CSPG4):c.6286C>T (p.Arg2096Cys)
NM_001897.5(CSPG4):c.6329T>C (p.Val2110Ala)
NM_001897.5(CSPG4):c.6371G>C (p.Gly2124Ala)
NM_001897.5(CSPG4):c.6403C>T (p.Pro2135Ser)
NM_001897.5(CSPG4):c.6451G>A (p.Val2151Ile)
NM_001897.5(CSPG4):c.6490C>G (p.Pro2164Ala)
NM_001897.5(CSPG4):c.6505C>T (p.Arg2169Trp)
NM_001897.5(CSPG4):c.6515G>A (p.Ser2172Asn)
NM_001897.5(CSPG4):c.6538G>A (p.Glu2180Lys)
NM_001897.5(CSPG4):c.6547C>T (p.Arg2183Trp)
NM_001897.5(CSPG4):c.6591G>T (p.Glu2197Asp)
NM_001897.5(CSPG4):c.6662A>C (p.Asn2221Thr)
NM_001897.5(CSPG4):c.6666G>A (p.Met2222Ile)
NM_001897.5(CSPG4):c.6749A>G (p.Asn2250Ser)
NM_001897.5(CSPG4):c.6799G>C (p.Gly2267Arg)
NM_001897.5(CSPG4):c.6817G>A (p.Glu2273Lys)
NM_001897.5(CSPG4):c.6835G>A (p.Glu2279Lys)
NM_001897.5(CSPG4):c.6925C>T (p.Arg2309Trp)
NM_001897.5(CSPG4):c.6926G>A (p.Arg2309Gln)
NM_001897.5(CSPG4):c.6958T>C (p.Tyr2320His)
NM_001897.5(CSPG4):c.6961T>C (p.Trp2321Arg)
NM_001897.5(CSPG4):c.737G>A (p.Arg246Gln)
NM_001897.5(CSPG4):c.767T>G (p.Phe256Cys)
NM_001897.5(CSPG4):c.781C>T (p.Arg261Trp)
NM_001897.5(CSPG4):c.800G>A (p.Gly267Asp)
NM_001897.5(CSPG4):c.811G>A (p.Val271Ile)
NM_001897.5(CSPG4):c.824A>G (p.Asn275Ser)
NM_001897.5(CSPG4):c.829G>A (p.Val277Met)
NM_001897.5(CSPG4):c.841G>A (p.Asp281Asn)
NM_001897.5(CSPG4):c.86C>T (p.Ala29Val)
NM_001897.5(CSPG4):c.875A>G (p.Asn292Ser)
NM_001897.5(CSPG4):c.878C>T (p.Ala293Val)
NM_001897.5(CSPG4):c.880C>T (p.His294Tyr)
NM_001897.5(CSPG4):c.898G>A (p.Val300Met)
NM_001897.5(CSPG4):c.91T>C (p.Ser31Pro)
NM_001897.5(CSPG4):c.956G>A (p.Arg319Gln)
NM_001897.5(CSPG4):c.973G>A (p.Gly325Arg)
NM_001897.5(CSPG4):c.998G>C (p.Arg333Pro)

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