ClinVar Miner

List of variants reported as likely pathogenic for Usher syndrome type 1F

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Total variants: 110
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HGVS dbSNP gnomAD frequency
NM_001384140.1(PCDH15):c.2751+2T>C rs754543131 0.00002
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121 0.00002
NM_001384140.1(PCDH15):c.4102G>T (p.Glu1368Ter) rs779165268 0.00002
NM_001384140.1(PCDH15):c.1006C>T (p.Arg336Ter) rs370261904 0.00001
NM_001384140.1(PCDH15):c.1583T>A (p.Val528Asp) rs267606932 0.00001
NM_001384140.1(PCDH15):c.1915C>T (p.Gln639Ter) rs138983888 0.00001
NM_001384140.1(PCDH15):c.1997+1G>A rs763797356 0.00001
NM_001384140.1(PCDH15):c.2419dup (p.Ile807fs) rs781148814 0.00001
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter) rs1057516342 0.00001
NM_001384140.1(PCDH15):c.3122+1G>T rs982893820 0.00001
NM_001384140.1(PCDH15):c.3433C>T (p.Gln1145Ter) rs1200451014 0.00001
NM_001384140.1(PCDH15):c.3717+2dup rs1248401224 0.00001
NM_001384140.1(PCDH15):c.3806+2T>C rs756692340 0.00001
NM_001384140.1(PCDH15):c.3807-2A>G rs1328440878 0.00001
NM_001384140.1(PCDH15):c.3983+1G>T rs758921360 0.00001
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter) rs137853003 0.00001
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln) rs767966376 0.00001
NM_001384140.1(PCDH15):c.4211+2T>G rs753832779 0.00001
NM_001384140.1(PCDH15):c.556C>T (p.Gln186Ter) rs1384677442 0.00001
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter) rs137853001 0.00001
NC_000010.10:g.(55663131_55698574)_(55945029_55955442)dup
NC_000010.10:g.(55849824_55892634)_(55943354_55944893)del
NC_000010.10:g.(55913054_55943203)_(55996692_56077030)del
NC_000010.10:g.(?_55580859)_(55591294_55600079)del
NM_001384140.1(PCDH15):c.1209T>G (p.Tyr403Ter) rs759187261
NM_001384140.1(PCDH15):c.1305+1G>A rs758947077
NM_001384140.1(PCDH15):c.1305+1G>C rs758947077
NM_001384140.1(PCDH15):c.1305+1del rs1554833699
NM_001384140.1(PCDH15):c.139del (p.Asp47fs) rs1555032952
NM_001384140.1(PCDH15):c.1401del (p.Gln467fs) rs1193650682
NM_001384140.1(PCDH15):c.1440+2T>C rs1363688830
NM_001384140.1(PCDH15):c.1441-2A>C rs758482449
NM_001384140.1(PCDH15):c.145G>T (p.Glu49Ter) rs1168400018
NM_001384140.1(PCDH15):c.157+1G>C rs1057516770
NM_001384140.1(PCDH15):c.158-2A>T rs1304228309
NM_001384140.1(PCDH15):c.1627del (p.Glu543fs) rs1057516892
NM_001384140.1(PCDH15):c.1637_1638del (p.Thr545_Tyr546insTer) rs1554816541
NM_001384140.1(PCDH15):c.16del (p.Tyr6fs) rs397517451
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter) rs1057517251
NM_001384140.1(PCDH15):c.1770_1771del (p.Pro591fs) rs1057517150
NM_001384140.1(PCDH15):c.1784+1G>T
NM_001384140.1(PCDH15):c.1785-2A>C rs1057516474
NM_001384140.1(PCDH15):c.1806T>G (p.Tyr602Ter) rs1057517443
NM_001384140.1(PCDH15):c.1830_1833del (p.Asn610fs) rs1057517261
NM_001384140.1(PCDH15):c.1917+2T>C rs1554806149
NM_001384140.1(PCDH15):c.1997+1G>T rs763797356
NM_001384140.1(PCDH15):c.1998-2A>G rs397517452
NM_001384140.1(PCDH15):c.1A>G (p.Met1Val) rs1040514625
NM_001384140.1(PCDH15):c.2052C>A (p.Tyr684Ter) rs1554956088
NM_001384140.1(PCDH15):c.2091+2T>C rs1554956023
NM_001384140.1(PCDH15):c.2487dup (p.Glu830fs) rs757027638
NM_001384140.1(PCDH15):c.2624C>A (p.Ser875Ter) rs201328768
NM_001384140.1(PCDH15):c.274C>T (p.Gln92Ter) rs143842048
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs) rs758685587
NM_001384140.1(PCDH15):c.2869-1G>T rs1554883705
NM_001384140.1(PCDH15):c.299del (p.Gly100fs) rs1554940316
NM_001384140.1(PCDH15):c.29del (p.Cys10fs) rs1555135419
NM_001384140.1(PCDH15):c.3023del (p.Ala1008fs) rs1057517284
NM_001384140.1(PCDH15):c.3029A>G (p.Asp1010Gly) rs776416750
NM_001384140.1(PCDH15):c.3082del (p.His1028fs) rs1057517325
NM_001384140.1(PCDH15):c.3122+1G>A rs982893820
NM_001384140.1(PCDH15):c.3122+2T>A rs1554882546
NM_001384140.1(PCDH15):c.3123-1G>A rs1554873550
NM_001384140.1(PCDH15):c.3211del (p.Ile1071fs) rs1057516974
NM_001384140.1(PCDH15):c.3232+1G>A
NM_001384140.1(PCDH15):c.3233-2A>G rs1554872194
NM_001384140.1(PCDH15):c.323del (p.Pro108fs) rs1554934073
NM_001384140.1(PCDH15):c.333dup (p.His112fs) rs1057516992
NM_001384140.1(PCDH15):c.3341del (p.Val1114fs) rs1057516656
NM_001384140.1(PCDH15):c.3374-1G>T rs1554852472
NM_001384140.1(PCDH15):c.3441dup (p.Phe1148fs) rs770832663
NM_001384140.1(PCDH15):c.3475dup (p.Met1159fs) rs746865307
NM_001384140.1(PCDH15):c.3495_3496del (p.Arg1165fs) rs2133664431
NM_001384140.1(PCDH15):c.3501+1G>T rs1402893508
NM_001384140.1(PCDH15):c.3502-2A>G rs1554836566
NM_001384140.1(PCDH15):c.358_359del (p.Cys120fs) rs1057517264
NM_001384140.1(PCDH15):c.3653del (p.Phe1218fs) rs1057516268
NM_001384140.1(PCDH15):c.3717+1G>A rs748706627
NM_001384140.1(PCDH15):c.3731_3734del (p.Asn1244fs) rs1554833314
NM_001384140.1(PCDH15):c.3791_3794del (p.Ile1264fs) rs1554833249
NM_001384140.1(PCDH15):c.3792_3798dup (p.Leu1267fs) rs1554833242
NM_001384140.1(PCDH15):c.3806+1G>C rs1554833227
NM_001384140.1(PCDH15):c.3885_3889dup (p.Ala1297fs) rs1057516780
NM_001384140.1(PCDH15):c.3984-1G>C rs1057520709
NM_001384140.1(PCDH15):c.3984-2A>G rs1554824185
NM_001384140.1(PCDH15):c.416_444del (p.Asp139fs) rs1057517182
NM_001384140.1(PCDH15):c.4197_4198insGTAG (p.Arg1400fs) rs1057516821
NM_001384140.1(PCDH15):c.4211+1G>A rs1554823229
NM_001384140.1(PCDH15):c.4211+1del rs1554823231
NM_001384140.1(PCDH15):c.4211+2dup rs1057517419
NM_001384140.1(PCDH15):c.4227T>A (p.Cys1409Ter) rs1057516472
NM_001384140.1(PCDH15):c.4231_4234dup (p.Thr1412fs) rs1554822897
NM_001384140.1(PCDH15):c.4237_4238del (p.Ala1413fs) rs1554822891
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup) rs559130985
NM_001384140.1(PCDH15):c.4313del (p.Pro1438fs) rs1057516351
NM_001384140.1(PCDH15):c.4367+1G>A rs1057516613
NM_001384140.1(PCDH15):c.4367+2T>C rs1554822703
NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs) rs766484375
NM_001384140.1(PCDH15):c.594+1G>T rs1057516470
NM_001384140.1(PCDH15):c.647T>G (p.Leu216Ter) rs1554903979
NM_001384140.1(PCDH15):c.705+1G>A rs1554903842
NM_001384140.1(PCDH15):c.706-3_717del rs769348776
NM_001384140.1(PCDH15):c.84T>A (p.Tyr28Ter) rs903145299
NM_001384140.1(PCDH15):c.876+1G>C rs2133646979
NM_001384140.1(PCDH15):c.901dup (p.Thr301fs) rs1057517048
NM_033056.4(PCDH15):c.4368-15_4368-2del rs1057516560
NM_033056.4(PCDH15):c.4368-2A>T rs989521806
NM_033056.4(PCDH15):c.5254_5280del (p.Pro1752_Pro1760del) rs767526540
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs) rs748086016
NM_033056.4(PCDH15):c.5682dup (p.Ser1895fs) rs1287068204

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