ClinVar Miner

List of variants in gene UBQLN2 studied for Amyotrophic lateral sclerosis type 15

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Gene type:
ClinVar version:
Total variants: 157
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HGVS dbSNP gnomAD frequency
NM_013444.4(UBQLN2):c.*1258C>T rs41306757 0.01401
NM_013444.4(UBQLN2):c.1461C>A (p.Thr487=) rs45559331 0.00516
NM_013444.4(UBQLN2):c.1383G>A (p.Gly461=) rs142250604 0.00313
NM_013444.4(UBQLN2):c.-163G>T rs192883799 0.00010
NM_013444.4(UBQLN2):c.51T>A (p.Pro17=) rs371163085 0.00010
NM_013444.4(UBQLN2):c.1302G>T (p.Leu434=) rs759543866 0.00007
NM_013444.4(UBQLN2):c.1525C>T (p.Pro509Ser) rs387906712 0.00005
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser) rs369947678 0.00005
NM_013444.4(UBQLN2):c.1715C>T (p.Ala572Val) rs772368310 0.00005
NM_013444.4(UBQLN2):c.1037C>G (p.Ser346Cys) rs753009660 0.00004
NM_013444.4(UBQLN2):c.1198A>G (p.Ser400Gly) rs781734842 0.00003
NM_013444.3(UBQLN2):c.-271G>C rs1057515974 0.00002
NM_013444.3(UBQLN2):c.-272T>C rs944115587 0.00002
NM_013444.4(UBQLN2):c.1019G>T (p.Ser340Ile) rs201549050 0.00002
NM_013444.4(UBQLN2):c.1455G>A (p.Leu485=) rs1214760842 0.00002
NM_013444.4(UBQLN2):c.1474G>C (p.Val492Leu) rs756653207 0.00002
NM_013444.4(UBQLN2):c.21C>G (p.Ser7Arg) rs202132872 0.00002
NM_013444.4(UBQLN2):c.*1171T>A rs937418356 0.00001
NM_013444.4(UBQLN2):c.*16T>C rs1057515977 0.00001
NM_013444.4(UBQLN2):c.*661A>T rs1001391381 0.00001
NM_013444.4(UBQLN2):c.1031A>G (p.Asn344Ser) rs779133675 0.00001
NM_013444.4(UBQLN2):c.1170C>T (p.Pro390=) rs1057515976 0.00001
NM_013444.4(UBQLN2):c.1274A>G (p.Gln425Arg) rs1243726473 0.00001
NM_013444.4(UBQLN2):c.1319C>T (p.Pro440Leu) rs763131369 0.00001
NM_013444.4(UBQLN2):c.1329A>G (p.Leu443=) rs766621093 0.00001
NM_013444.4(UBQLN2):c.1516C>T (p.Pro506Ser) rs387906711 0.00001
NM_013444.4(UBQLN2):c.1595G>A (p.Gly532Asp) rs1343347647 0.00001
NM_013444.4(UBQLN2):c.1714G>A (p.Ala572Thr) rs1293533801 0.00001
NM_013444.4(UBQLN2):c.1727C>A (p.Pro576Gln) rs1569254665 0.00001
NM_013444.4(UBQLN2):c.1734A>G (p.Pro578=) rs1271440811 0.00001
NM_013444.4(UBQLN2):c.243A>G (p.Leu81=) rs778382794 0.00001
NM_013444.4(UBQLN2):c.808C>T (p.Arg270Cys) rs1330837640 0.00001
NM_013444.4(UBQLN2):c.82G>C (p.Ala28Pro) rs1459753673 0.00001
NM_013444.3(UBQLN2):c.-277A>C rs1057515973
NM_013444.4(UBQLN2):c.*41G>T rs990201540
NM_013444.4(UBQLN2):c.*655A>C rs2068642753
NM_013444.4(UBQLN2):c.*881A>G rs1057515979
NM_013444.4(UBQLN2):c.*905G>A rs2068644137
NM_013444.4(UBQLN2):c.-159A>G rs2068626818
NM_013444.4(UBQLN2):c.-54T>G rs2068627546
NM_013444.4(UBQLN2):c.1001C>T (p.Thr334Met)
NM_013444.4(UBQLN2):c.1003A>T (p.Thr335Ser)
NM_013444.4(UBQLN2):c.1011C>T (p.Ser337=) rs972652102
NM_013444.4(UBQLN2):c.1013C>T (p.Thr338Ile) rs917131397
NM_013444.4(UBQLN2):c.1028G>A (p.Gly343Asp)
NM_013444.4(UBQLN2):c.1039A>G (p.Ser347Gly)
NM_013444.4(UBQLN2):c.1040G>A (p.Ser347Asn)
NM_013444.4(UBQLN2):c.1049C>T (p.Thr350Ile)
NM_013444.4(UBQLN2):c.1053G>A (p.Gly351=)
NM_013444.4(UBQLN2):c.1060G>A (p.Val354Ile) rs748840115
NM_013444.4(UBQLN2):c.1060G>C (p.Val354Leu)
NM_013444.4(UBQLN2):c.1068C>A (p.Ala356=)
NM_013444.4(UBQLN2):c.1081G>A (p.Ala361Thr)
NM_013444.4(UBQLN2):c.1094G>C (p.Ser365Thr)
NM_013444.4(UBQLN2):c.1112G>A (p.Ser371Asn)
NM_013444.4(UBQLN2):c.1126A>G (p.Ile376Val)
NM_013444.4(UBQLN2):c.1144C>T (p.Leu382=)
NM_013444.4(UBQLN2):c.1173C>T (p.Tyr391=)
NM_013444.4(UBQLN2):c.1219G>T (p.Ala407Ser)
NM_013444.4(UBQLN2):c.1275G>T (p.Gln425His)
NM_013444.4(UBQLN2):c.1279C>G (p.Arg427Gly) rs2068634857
NM_013444.4(UBQLN2):c.1318C>T (p.Pro440Ser)
NM_013444.4(UBQLN2):c.138C>T (p.Phe46=)
NM_013444.4(UBQLN2):c.1391C>T (p.Thr464Ile)
NM_013444.4(UBQLN2):c.1407A>T (p.Ala469=)
NM_013444.4(UBQLN2):c.1416G>C (p.Leu472=)
NM_013444.4(UBQLN2):c.1422G>A (p.Pro474=)
NM_013444.4(UBQLN2):c.1464T>C (p.Ala488=)
NM_013444.4(UBQLN2):c.1474G>T (p.Val492Leu) rs756653207
NM_013444.4(UBQLN2):c.1481C>T (p.Pro494Leu)
NM_013444.4(UBQLN2):c.1486A>G (p.Thr496Ala) rs2146636525
NM_013444.4(UBQLN2):c.1489C>T (p.Pro497Ser) rs387906710
NM_013444.4(UBQLN2):c.1490C>A (p.Pro497His) rs387906709
NM_013444.4(UBQLN2):c.1490C>G (p.Pro497Arg) rs387906709
NM_013444.4(UBQLN2):c.1490C>T (p.Pro497Leu) rs387906709
NM_013444.4(UBQLN2):c.1491CATAGGCCC[1] (p.499GPI[1])
NM_013444.4(UBQLN2):c.1503A>G (p.Ile501Met)
NM_013444.4(UBQLN2):c.150G>A (p.Glu50=)
NM_013444.4(UBQLN2):c.1516C>A (p.Pro506Thr) rs387906711
NM_013444.4(UBQLN2):c.1522A>G (p.Thr508Ala)
NM_013444.4(UBQLN2):c.1523C>A (p.Thr508Asn)
NM_013444.4(UBQLN2):c.1527C>T (p.Pro509=)
NM_013444.4(UBQLN2):c.1533_1550del (p.510IGP[1])
NM_013444.4(UBQLN2):c.1568C>T (p.Ala523Val)
NM_013444.4(UBQLN2):c.1569C>T (p.Ala523=)
NM_013444.4(UBQLN2):c.1573C>G (p.Pro525Ala)
NM_013444.4(UBQLN2):c.1574C>T (p.Pro525Leu) rs1602589802
NM_013444.4(UBQLN2):c.1579T>C (p.Ser527Pro)
NM_013444.4(UBQLN2):c.1584C>T (p.Thr528=)
NM_013444.4(UBQLN2):c.1591G>C (p.Gly531Arg)
NM_013444.4(UBQLN2):c.159G>T (p.Ser53=)
NM_013444.4(UBQLN2):c.1601C>T (p.Thr534Met)
NM_013444.4(UBQLN2):c.1602G>A (p.Thr534=)
NM_013444.4(UBQLN2):c.1624G>T (p.Ala542Ser)
NM_013444.4(UBQLN2):c.1640C>T (p.Thr547Met)
NM_013444.4(UBQLN2):c.165G>A (p.Gln55=)
NM_013444.4(UBQLN2):c.1663C>T (p.Pro555Ser)
NM_013444.4(UBQLN2):c.1698C>T (p.Ala566=)
NM_013444.4(UBQLN2):c.1707A>T (p.Gly569=)
NM_013444.4(UBQLN2):c.1713T>C (p.Asn571=)
NM_013444.4(UBQLN2):c.1719A>G (p.Pro573=)
NM_013444.4(UBQLN2):c.171T>G (p.Phe57Leu)
NM_013444.4(UBQLN2):c.1722G>T (p.Gln574His)
NM_013444.4(UBQLN2):c.1728G>A (p.Pro576=)
NM_013444.4(UBQLN2):c.1733C>T (p.Pro578Leu)
NM_013444.4(UBQLN2):c.1752A>C (p.Gln584His)
NM_013444.4(UBQLN2):c.1758G>T (p.Leu586=)
NM_013444.4(UBQLN2):c.1764G>A (p.Gln588=)
NM_013444.4(UBQLN2):c.1779G>T (p.Gly593=)
NM_013444.4(UBQLN2):c.1794A>T (p.Glu598Asp)
NM_013444.4(UBQLN2):c.1803G>A (p.Leu601=)
NM_013444.4(UBQLN2):c.180G>T (p.Ala60=)
NM_013444.4(UBQLN2):c.1852C>T (p.Leu618=) rs1602589986
NM_013444.4(UBQLN2):c.1858G>C (p.Gly620Arg) rs2068639281
NM_013444.4(UBQLN2):c.186G>A (p.Ser62=)
NM_013444.4(UBQLN2):c.1872G>A (p.Ser624=)
NM_013444.4(UBQLN2):c.195C>T (p.Phe65=)
NM_013444.4(UBQLN2):c.253G>C (p.Asp85His)
NM_013444.4(UBQLN2):c.278A>G (p.His93Arg) rs2146635699
NM_013444.4(UBQLN2):c.286C>A (p.Leu96Met)
NM_013444.4(UBQLN2):c.320G>A (p.Arg107Gln) rs1602589042
NM_013444.4(UBQLN2):c.327G>C (p.Gln109His)
NM_013444.4(UBQLN2):c.359G>C (p.Gly120Ala)
NM_013444.4(UBQLN2):c.364A>G (p.Asn122Asp)
NM_013444.4(UBQLN2):c.368C>G (p.Thr123Ser)
NM_013444.4(UBQLN2):c.399C>T (p.Ser133=)
NM_013444.4(UBQLN2):c.39C>A (p.Pro13=)
NM_013444.4(UBQLN2):c.401C>T (p.Thr134Ile)
NM_013444.4(UBQLN2):c.405T>C (p.Pro135=)
NM_013444.4(UBQLN2):c.431G>A (p.Gly144Glu)
NM_013444.4(UBQLN2):c.433T>C (p.Leu145=)
NM_013444.4(UBQLN2):c.438G>A (p.Gly146=)
NM_013444.4(UBQLN2):c.440G>T (p.Ser147Ile)
NM_013444.4(UBQLN2):c.462T>C (p.Leu154=)
NM_013444.4(UBQLN2):c.464G>A (p.Ser155Asn)
NM_013444.4(UBQLN2):c.49C>T (p.Pro17Ser)
NM_013444.4(UBQLN2):c.4G>T (p.Ala2Ser)
NM_013444.4(UBQLN2):c.56C>T (p.Ala19Val) rs2146635566
NM_013444.4(UBQLN2):c.69G>A (p.Ser23=)
NM_013444.4(UBQLN2):c.76G>T (p.Ala26Ser)
NM_013444.4(UBQLN2):c.779G>A (p.Ser260Asn)
NM_013444.4(UBQLN2):c.809G>T (p.Arg270Leu)
NM_013444.4(UBQLN2):c.823A>C (p.Ile275Leu)
NM_013444.4(UBQLN2):c.834G>C (p.Pro278=)
NM_013444.4(UBQLN2):c.844G>A (p.Ala282Thr)
NM_013444.4(UBQLN2):c.845C>T (p.Ala282Val)
NM_013444.4(UBQLN2):c.846C>A (p.Ala282=)
NM_013444.4(UBQLN2):c.847G>A (p.Ala283Thr) rs749463696
NM_013444.4(UBQLN2):c.857A>G (p.Gln286Arg) rs2146636094
NM_013444.4(UBQLN2):c.900C>T (p.Ser300=) rs1451386394
NM_013444.4(UBQLN2):c.904G>C (p.Gly302Arg)
NM_013444.4(UBQLN2):c.915G>C (p.Thr305=) rs1474772730
NM_013444.4(UBQLN2):c.938G>A (p.Arg313His) rs2068632850
NM_013444.4(UBQLN2):c.968C>T (p.Pro323Leu) rs1555977386
NM_013444.4(UBQLN2):c.969G>A (p.Pro323=)
NM_013444.4(UBQLN2):c.977C>T (p.Thr326Ile)
NM_013444.4(UBQLN2):c.990A>G (p.Ala330=)

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