ClinVar Miner

List of variants reported as pathogenic by Institute for Human Genetics, University Hospital Essen

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Total variants: 58
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 12p12.1(chr12:23147341-23893799)x1
GRCh37/hg19 12p12.1(chr12:23457173-25177321)x1
GRCh37/hg19 12p12.1(chr12:23685093-23728869)x1
GRCh37/hg19 12p12.1(chr12:23718347-23769414)x1
GRCh37/hg19 12p12.1(chr12:23723120-23908799)x1
GRCh37/hg19 12p12.1(chr12:23773664-23893799)x1
GRCh37/hg19 12p12.1(chr12:24102502-24173232)x1
NM_005885.4(MARCHF6):c.19+2427TTTAT[641]
NM_006940.6(SOX5):c.1411C>T (p.Arg471Ter) rs1592099852
NM_006940.6(SOX5):c.1465dup (p.Leu489fs) rs1592099396
NM_006940.6(SOX5):c.1477C>T (p.Arg493Ter) rs895607185
NM_006940.6(SOX5):c.1597+2T>A rs1555141265
NM_006940.6(SOX5):c.1613C>G (p.Ser538Ter) rs1591909421
NM_006940.6(SOX5):c.1678A>G (p.Met560Val) rs1591908609
NM_006940.6(SOX5):c.1681A>C (p.Asn561His) rs1591908568
NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp) rs1565669640
NM_006940.6(SOX5):c.1782G>A (p.Trp594Ter) rs1591833842
NM_006940.6(SOX5):c.1814A>G (p.Tyr605Cys) rs1591833522
NM_006940.6(SOX5):c.1819G>T (p.Glu607Ter) rs1591833497
NM_006940.6(SOX5):c.518G>A (p.Trp173Ter) rs1594078334
NM_006940.6(SOX5):c.622C>T (p.Gln208Ter) rs1555307370
NM_006940.6(SOX5):c.637C>T (p.Arg213Ter) rs767241917
NM_006940.6(SOX5):c.747_748del (p.Arg250fs) rs1555301854
NM_006940.6(SOX5):c.820C>T (p.Gln274Ter) rs1593090725
NM_006950.3(SYN1):c.1001del (p.Asn334fs) rs1603051674
NM_006950.3(SYN1):c.1258dup (p.Arg420fs)
NM_006950.3(SYN1):c.1264C>T (p.Arg422Ter) rs757027813
NM_006950.3(SYN1):c.1321dup (p.Ala441fs)
NM_006950.3(SYN1):c.1439dup (p.Leu481fs) rs1556857481
NM_006950.3(SYN1):c.1447C>T (p.Gln483Ter) rs2057771219
NM_006950.3(SYN1):c.1729del (p.Ala577fs)
NM_006950.3(SYN1):c.1794_1906del (p.Thr601fs)
NM_006950.3(SYN1):c.2del (p.Met1fs) rs2057942403
NM_006950.3(SYN1):c.39del (p.Phe13fs)
NM_006950.3(SYN1):c.528-2A>T rs1556860663
NM_006950.3(SYN1):c.745C>T (p.Gln249Ter) rs2057891984
NM_006950.3(SYN1):c.975del (p.Tyr326fs)
NM_006950.3(SYN1):c.980+43_981del
NM_013275.6(ANKRD11):c.1381_1384del (p.Glu461fs) rs1597464953
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.1977C>A (p.Tyr659Ter) rs749201074
NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs) rs797045027
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs) rs886039902
NM_013275.6(ANKRD11):c.2692C>T (p.Arg898Ter) rs780011005
NM_013275.6(ANKRD11):c.3591_3594del (p.Lys1198fs) rs2151754276
NM_013275.6(ANKRD11):c.3888dup (p.Asn1297fs) rs2151752804
NM_013275.6(ANKRD11):c.4087C>T (p.Arg1363Ter) rs1364690005
NM_013275.6(ANKRD11):c.4218C>A (p.Tyr1406Ter) rs764501022
NM_013275.6(ANKRD11):c.5123C>A (p.Ser1708Ter) rs371204323
NM_013275.6(ANKRD11):c.7356dup (p.Lys2453fs) rs2151729404
NM_013275.6(ANKRD11):c.915del (p.Pro306fs) rs2151766822
NM_021614.4(KCNN2):c.1116C>A (p.Tyr372Ter) rs774833524
NM_021614.4(KCNN2):c.1436_1439del (p.Leu478_Tyr479insTer) rs1758879579
NM_021614.4(KCNN2):c.1598_1600del (p.Leu533del) rs1554086554
NM_021614.4(KCNN2):c.1713T>G (p.Ile571Met) rs1761282406
NM_021614.4(KCNN2):c.1720G>A (p.Gly574Ser) rs1761282724
NM_021614.4(KCNN2):c.1798C>G (p.Leu600Val) rs1761822790
NM_021614.4(KCNN2):c.1931T>C (p.Leu644Pro) rs1747594790

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