ClinVar Miner

List of variants studied for Cockayne syndrome type 2 by Myriad Genetics, Inc.

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.2287-2A>G rs754978734 0.00002
NM_000124.4(ERCC6):c.1040del (p.Gly347fs)
NM_000124.4(ERCC6):c.1154delinsTACACTTTT (p.Asp385fs)
NM_000124.4(ERCC6):c.1174G>T (p.Glu392Ter)
NM_000124.4(ERCC6):c.1212_1213del (p.Lys405fs)
NM_000124.4(ERCC6):c.1213A>T (p.Lys405Ter)
NM_000124.4(ERCC6):c.1214_1215insCTGGCACTTTCTT (p.Lys405fs)
NM_000124.4(ERCC6):c.1274_1275insGCTTCAG (p.Asp425fs)
NM_000124.4(ERCC6):c.1307_1316del (p.Ala436fs)
NM_000124.4(ERCC6):c.1342A>T (p.Lys448Ter)
NM_000124.4(ERCC6):c.1467_1468del (p.Ser489fs)
NM_000124.4(ERCC6):c.1516A>T (p.Lys506Ter) rs1851434105
NM_000124.4(ERCC6):c.1719T>A (p.Cys573Ter)
NM_000124.4(ERCC6):c.1759_1760del (p.Thr587fs)
NM_000124.4(ERCC6):c.1777A>T (p.Arg593Ter) rs768188064
NM_000124.4(ERCC6):c.1815del (p.His605fs)
NM_000124.4(ERCC6):c.1816A>T (p.Lys606Ter) rs961060711
NM_000124.4(ERCC6):c.1867_1869delinsT (p.Thr623fs)
NM_000124.4(ERCC6):c.1905del (p.Ser636fs)
NM_000124.4(ERCC6):c.1914T>A (p.Tyr638Ter)
NM_000124.4(ERCC6):c.1919G>A (p.Trp640Ter) rs1851015811
NM_000124.4(ERCC6):c.1926T>A (p.Tyr642Ter)
NM_000124.4(ERCC6):c.2035C>T (p.Gln679Ter)
NM_000124.4(ERCC6):c.2106del (p.Phe703fs)
NM_000124.4(ERCC6):c.2134_2135del (p.Thr712fs)
NM_000124.4(ERCC6):c.2166del (p.Gln723fs)
NM_000124.4(ERCC6):c.2201T>G (p.Leu734Ter) rs1850916835
NM_000124.4(ERCC6):c.2307_2308insATTGT (p.Asp770fs)
NM_000124.4(ERCC6):c.2380C>T (p.Gln794Ter) rs1850874595
NM_000124.4(ERCC6):c.2504G>A (p.Trp835Ter) rs1850832795
NM_000124.4(ERCC6):c.2543T>A (p.Leu848Ter) rs1850832063
NM_000124.4(ERCC6):c.2548del (p.Ile850fs)
NM_000124.4(ERCC6):c.2566C>T (p.Gln856Ter) rs1850831525
NM_000124.4(ERCC6):c.2636del (p.Lys879fs)
NM_000124.4(ERCC6):c.2796T>A (p.Tyr932Ter)
NM_000124.4(ERCC6):c.2807G>A (p.Trp936Ter) rs1283213117
NM_000124.4(ERCC6):c.2846G>A (p.Trp949Ter) rs1850797541
NM_000124.4(ERCC6):c.2881_2882insTCTTCGT (p.Arg961fs)
NM_000124.4(ERCC6):c.3002_3003delinsA (p.Leu1001fs)
NM_000124.4(ERCC6):c.3007G>T (p.Glu1003Ter) rs1850770605
NM_000124.4(ERCC6):c.3070G>T (p.Gly1024Ter) rs1850769140
NM_000124.4(ERCC6):c.3097A>T (p.Lys1033Ter) rs1850766086
NM_000124.4(ERCC6):c.3234_3235del (p.Glu1079fs)
NM_000124.4(ERCC6):c.3322G>T (p.Gly1108Ter)
NM_000124.4(ERCC6):c.3355G>T (p.Glu1119Ter) rs1850759141
NM_000124.4(ERCC6):c.3448A>T (p.Lys1150Ter) rs1850757159
NM_000124.4(ERCC6):c.3465C>A (p.Tyr1155Ter) rs1286402535
NM_000124.4(ERCC6):c.3489_3490del (p.Gln1164fs)
NM_000124.4(ERCC6):c.3505dup (p.Trp1169fs)
NM_000124.4(ERCC6):c.3544A>T (p.Lys1182Ter) rs1850754584
NM_000124.4(ERCC6):c.3571_3572insATCGT (p.Ala1191fs)
NM_000124.4(ERCC6):c.3574G>T (p.Glu1192Ter) rs1850753467
NM_000124.4(ERCC6):c.3598_3599del (p.Leu1200fs)
NM_000124.4(ERCC6):c.3623_3624insTG (p.Ser1209fs)
NM_000124.4(ERCC6):c.3637A>T (p.Arg1213Ter) rs2228527
NM_000124.4(ERCC6):c.3655G>T (p.Gly1219Ter) rs1850750513
NM_000124.4(ERCC6):c.3677_3678del (p.Val1226fs)
NM_000124.4(ERCC6):c.3682A>T (p.Lys1228Ter)
NM_000124.4(ERCC6):c.3757G>T (p.Glu1253Ter) rs1850747928
NM_000124.4(ERCC6):c.3768_3769delinsT (p.Lys1258fs)
NM_000124.4(ERCC6):c.454A>T (p.Lys152Ter)
NM_000124.4(ERCC6):c.463G>T (p.Glu155Ter)
NM_000124.4(ERCC6):c.574C>T (p.Gln192Ter) rs1837393519
NM_000124.4(ERCC6):c.619G>T (p.Glu207Ter)
NM_000124.4(ERCC6):c.775A>T (p.Lys259Ter)

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