ClinVar Miner

List of variants studied for Werner syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_000553.6(WRN):c.1953C>T (p.Gly651=) rs11574263 0.00627
NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr) rs142614369 0.00132
NM_000553.6(WRN):c.1027G>A (p.Glu343Lys) rs11574222 0.00072
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter) rs17847577 0.00033
NM_000553.6(WRN):c.130C>G (p.Leu44Val) rs139775895 0.00031
NM_000553.6(WRN):c.3259A>G (p.Lys1087Glu) rs374154973 0.00028
NM_000553.6(WRN):c.2986G>A (p.Asp996Asn) rs138379977 0.00026
NM_000553.6(WRN):c.229G>C (p.Asp77His) rs144670883 0.00025
NM_000553.6(WRN):c.1382C>T (p.Thr461Met) rs371602600 0.00020
NM_000553.6(WRN):c.1531G>C (p.Asp511His) rs368413625 0.00018
NM_000553.6(WRN):c.2114C>T (p.Thr705Ile) rs141563618 0.00017
NM_000553.6(WRN):c.3097C>T (p.Arg1033Trp) rs143954702 0.00011
NM_000553.6(WRN):c.4127C>T (p.Pro1376Leu) rs146055899 0.00010
NM_000553.6(WRN):c.3623A>G (p.Lys1208Arg) rs529421538 0.00009
NM_000553.6(WRN):c.1840A>G (p.Ile614Val) rs577000913 0.00008
NM_000553.6(WRN):c.3819+5G>C rs770289356 0.00008
NM_000553.6(WRN):c.1388A>G (p.Tyr463Cys) rs1339450958 0.00004
NM_000553.6(WRN):c.2263G>A (p.Val755Ile) rs769448856 0.00004
NM_000553.6(WRN):c.2411A>G (p.Lys804Arg) rs145698720 0.00004
NM_000553.6(WRN):c.3284C>T (p.Pro1095Leu) rs746470648 0.00004
NM_000553.6(WRN):c.3778G>A (p.Ala1260Thr) rs201107091 0.00004
NM_000553.6(WRN):c.485C>T (p.Thr162Ile) rs147661728 0.00004
NM_000553.6(WRN):c.674G>A (p.Arg225Gln) rs62506077 0.00004
NM_000553.6(WRN):c.1652C>T (p.Pro551Leu) rs781107893 0.00003
NM_000553.6(WRN):c.201A>G (p.Glu67=) rs764589321 0.00003
NM_000553.6(WRN):c.2098G>A (p.Val700Ile) rs1038838933 0.00003
NM_000553.6(WRN):c.25A>G (p.Thr9Ala) rs757791580 0.00003
NM_000553.6(WRN):c.2944C>T (p.Pro982Ser) rs756832663 0.00003
NM_000553.6(WRN):c.2978G>A (p.Arg993His) rs370713742 0.00003
NM_000553.6(WRN):c.4001T>G (p.Leu1334Arg) rs200403732 0.00003
NM_000553.6(WRN):c.1466C>T (p.Pro489Leu) rs750052448 0.00002
NM_000553.6(WRN):c.1578del (p.Leu528fs) rs780555196 0.00002
NM_000553.6(WRN):c.3134A>G (p.Lys1045Arg) rs369095273 0.00002
NM_000553.6(WRN):c.3251C>T (p.Ser1084Leu) rs587778748 0.00002
NM_000553.6(WRN):c.3613T>C (p.Ser1205Pro) rs368955181 0.00002
NM_000553.6(WRN):c.3893G>T (p.Gly1298Val) rs202129203 0.00002
NM_000553.6(WRN):c.3913C>T (p.Arg1305Ter) rs121908446 0.00002
NM_000553.6(WRN):c.587G>A (p.Arg196His) rs561603992 0.00002
NM_000553.6(WRN):c.836G>A (p.Arg279Gln) rs768400363 0.00002
NM_000553.6(WRN):c.1351-1G>A rs1170732591 0.00001
NM_000553.6(WRN):c.1439A>T (p.Glu480Val) rs775240079 0.00001
NM_000553.6(WRN):c.1457C>T (p.Thr486Met) rs761328537 0.00001
NM_000553.6(WRN):c.1543G>C (p.Glu515Gln) rs376345065 0.00001
NM_000553.6(WRN):c.2102C>A (p.Ala701Glu) rs904972234 0.00001
NM_000553.6(WRN):c.2194C>T (p.Arg732Ter) rs143916053 0.00001
NM_000553.6(WRN):c.2372G>A (p.Cys791Tyr) rs754423621 0.00001
NM_000553.6(WRN):c.3042G>A (p.Trp1014Ter) rs371720457 0.00001
NM_000553.6(WRN):c.3335A>G (p.Tyr1112Cys) rs113532342 0.00001
NM_000553.6(WRN):c.3384-1G>A rs776963381 0.00001
NM_000553.6(WRN):c.349A>G (p.Met117Val) rs768216398 0.00001
NM_000553.6(WRN):c.3700T>G (p.Ser1234Ala) rs951983679 0.00001
NM_000553.6(WRN):c.3703A>G (p.Ser1235Gly) rs769121831 0.00001
NM_000553.6(WRN):c.3775A>G (p.Met1259Val) rs1053530158 0.00001
NM_000553.6(WRN):c.3854T>G (p.Met1285Arg) rs371799306 0.00001
NM_000553.6(WRN):c.406G>A (p.Ala136Thr) rs17847582 0.00001
NM_000553.6(WRN):c.4165A>G (p.Lys1389Glu) rs587778751 0.00001
NM_000553.6(WRN):c.4191+1G>A rs1279354218 0.00001
NM_000553.6(WRN):c.445C>T (p.Arg149Cys) rs752693894 0.00001
NM_000553.6(WRN):c.527G>T (p.Ser176Ile) rs748976035 0.00001
NM_000553.6(WRN):c.655-20A>G rs1056118121 0.00001
NM_000553.6(WRN):c.725-3del rs778493200 0.00001
NM_000553.6(WRN):c.830A>C (p.Asn277Thr) rs749379604 0.00001
NM_000553.6(WRN):c.1020T>G (p.Ile340Met) rs775231592
NM_000553.6(WRN):c.1150A>G (p.Lys384Glu) rs1563338919
NM_000553.6(WRN):c.1165del (p.Arg389fs) rs878854131
NM_000553.6(WRN):c.1181C>T (p.Ser394Leu) rs200487813
NM_000553.6(WRN):c.1229dup (p.Glu411fs) rs1563339062
NM_000553.6(WRN):c.1283del (p.Asn428fs)
NM_000553.6(WRN):c.1301C>G (p.Thr434Arg) rs761035278
NM_000553.6(WRN):c.1408G>T (p.Asp470Tyr) rs759321856
NM_000553.6(WRN):c.1433C>A (p.Ser478Tyr) rs1585436633
NM_000553.6(WRN):c.1486_1489del (p.Lys496fs)
NM_000553.6(WRN):c.1582T>G (p.Leu528Val)
NM_000553.6(WRN):c.1587G>A (p.Trp529Ter)
NM_000553.6(WRN):c.1628dup (p.Tyr543Ter)
NM_000553.6(WRN):c.1846G>C (p.Ala616Pro) rs1249084291
NM_000553.6(WRN):c.1898+2T>G rs772319506
NM_000553.6(WRN):c.1908C>A (p.Tyr636Ter) rs1585449207
NM_000553.6(WRN):c.2011C>T (p.His671Tyr) rs2130229162
NM_000553.6(WRN):c.2017dup (p.Ile673fs)
NM_000553.6(WRN):c.202G>T (p.Asp68Tyr) rs2130005767
NM_000553.6(WRN):c.2103_2104del (p.Leu702fs) rs1383589957
NM_000553.6(WRN):c.2118_2119del (p.Ser707fs)
NM_000553.6(WRN):c.229dup (p.Asp77fs) rs747587698
NM_000553.6(WRN):c.2345del (p.Gly782fs) rs1585478303
NM_000553.6(WRN):c.2445T>G (p.Ile815Met)
NM_000553.6(WRN):c.2449-3_2449-2del
NM_000553.6(WRN):c.2572G>A (p.Asp858Asn)
NM_000553.6(WRN):c.2932G>T (p.Gly978Ter)
NM_000553.6(WRN):c.2936T>C (p.Ile979Thr) rs775356894
NM_000553.6(WRN):c.3004A>T (p.Ser1002Cys)
NM_000553.6(WRN):c.3209_3211delinsTTT (p.Cys1070_Pro1071delinsPheSer) rs878854138
NM_000553.6(WRN):c.3244_3245del (p.Val1082fs) rs770947623
NM_000553.6(WRN):c.3244del (p.Val1082fs) rs745905108
NM_000553.6(WRN):c.3260A>G (p.Lys1087Arg)
NM_000553.6(WRN):c.3260_3261del (p.Lys1087fs)
NM_000553.6(WRN):c.3309+1G>T rs1281075870
NM_000553.6(WRN):c.3446del (p.Glu1149fs)
NM_000553.6(WRN):c.3590del (p.Asn1197fs) rs281865160
NM_000553.6(WRN):c.3638C>T (p.Ala1213Val)
NM_000553.6(WRN):c.3690_3693del rs606231162
NM_000553.6(WRN):c.3700del (p.Ser1234fs)
NM_000553.6(WRN):c.3713C>T (p.Pro1238Leu) rs1060500070
NM_000553.6(WRN):c.3814C>T (p.Pro1272Ser) rs776989868
NM_000553.6(WRN):c.3819+1G>C rs748618811
NM_000553.6(WRN):c.4011G>A (p.Met1337Ile) rs544317387
NM_000553.6(WRN):c.4075C>A (p.Pro1359Thr) rs1803921475
NM_000553.6(WRN):c.4112A>G (p.Lys1371Arg)
NM_000553.6(WRN):c.725-2A>C
NM_000553.6(WRN):c.734T>C (p.Ile245Thr)
NM_000553.6(WRN):c.769A>G (p.Ile257Val) rs886044530
NM_000553.6(WRN):c.836G>C (p.Arg279Pro) rs768400363
NM_000553.6(WRN):c.851_852insTA (p.Leu284fs)
NM_000553.6(WRN):c.924_928del (p.Leu309fs)
NM_000553.6(WRN):c.985C>T (p.Gln329Ter) rs1813285283

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