ClinVar Miner

List of variants studied for Usher syndrome by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (38):
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ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_020989.4(CRYGC):c.143G>A (p.Arg48His) rs61751949 0.01047
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg) rs148509395 0.00356
NM_139281.3(WDR36):c.1177G>A (p.Ala393Thr) rs35703638 0.00326
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258 0.00016
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) rs111033260 0.00012
NM_001384140.1(PCDH15):c.4214G>A (p.Arg1405His) rs143538460 0.00008
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_001384140.1(PCDH15):c.131T>C (p.Val44Ala) rs750302536 0.00005
NM_001384140.1(PCDH15):c.833G>A (p.Arg278His) rs369442293 0.00004
NM_001384140.1(PCDH15):c.3101G>A (p.Arg1034His) rs907693214 0.00003
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.5054T>C (p.Val1685Ala) rs755487351 0.00002
NM_001384140.1(PCDH15):c.841A>G (p.Thr281Ala) rs773843633 0.00002
NM_001384140.1(PCDH15):c.1583T>A (p.Val528Asp) rs267606932 0.00001
NM_001384140.1(PCDH15):c.1997+1G>A rs763797356 0.00001
NM_001384140.1(PCDH15):c.2138A>G (p.Asn713Ser) rs190878515 0.00001
NM_001384140.1(PCDH15):c.2419dup (p.Ile807fs) rs781148814 0.00001
NM_001384140.1(PCDH15):c.2539G>A (p.Asp847Asn) rs751941551 0.00001
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter) rs1057516342 0.00001
NM_001384140.1(PCDH15):c.2971C>T (p.Arg991Ter) rs754391973 0.00001
NM_001384140.1(PCDH15):c.3122+1G>T rs982893820 0.00001
NM_001384140.1(PCDH15):c.3358C>T (p.Arg1120Ter) rs773404494 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.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.4118C>T (p.Thr1373Ile) rs756490783 0.00001
NM_001384140.1(PCDH15):c.4211+2T>G rs753832779 0.00001
NM_001384140.1(PCDH15):c.4246C>A (p.Gln1416Lys) rs765215862 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
NM_001384140.1(PCDH15):c.92-528C>T rs190773725 0.00001
NM_001267727.2(ARSG):c.663_664del (p.Lys222fs)
NM_001384140.1(PCDH15):c.1209T>G (p.Tyr403Ter) rs759187261
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.1456G>A (p.Gly486Ser) rs1196401374
NM_001384140.1(PCDH15):c.1529del (p.Pro510fs) rs767847479
NM_001384140.1(PCDH15):c.158-2A>T rs1304228309
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter) rs1057517251
NM_001384140.1(PCDH15):c.1784+1G>T
NM_001384140.1(PCDH15):c.180G>A (p.Met60Ile)
NM_001384140.1(PCDH15):c.1830_1833del (p.Asn610fs) rs1057517261
NM_001384140.1(PCDH15):c.1863_1864dup (p.Ser622fs)
NM_001384140.1(PCDH15):c.1924G>A (p.Asp642Asn) rs1455035148
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del) rs483352837
NM_001384140.1(PCDH15):c.2487dup (p.Glu830fs) rs757027638
NM_001384140.1(PCDH15):c.2624C>T (p.Ser875Leu)
NM_001384140.1(PCDH15):c.2754dup (p.Met919fs)
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs) rs758685587
NM_001384140.1(PCDH15):c.2868+5G>A rs757993503
NM_001384140.1(PCDH15):c.3029A>G (p.Asp1010Gly) rs776416750
NM_001384140.1(PCDH15):c.3232+1G>A
NM_001384140.1(PCDH15):c.3475dup (p.Met1159fs) rs746865307
NM_001384140.1(PCDH15):c.3501+2T>C rs757418440
NM_001384140.1(PCDH15):c.3717+1G>T rs748706627
NM_001384140.1(PCDH15):c.3718-2A>G rs1307471318
NM_001384140.1(PCDH15):c.3761dup (p.Asn1254fs)
NM_001384140.1(PCDH15):c.4127C>A (p.Ala1376Asp) rs752371584
NM_001384140.1(PCDH15):c.4310C>T (p.Pro1437Leu)
NM_001384140.1(PCDH15):c.4323_4328del (p.Pro1442_Pro1443del)
NM_001384140.1(PCDH15):c.440T>G (p.Phe147Cys)
NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs) rs766484375
NM_001384140.1(PCDH15):c.706-3_717del rs769348776
NM_001384140.1(PCDH15):c.875C>G (p.Pro292Arg) rs138744579
NM_001384140.1(PCDH15):c.985G>A (p.Gly329Arg)
NM_006314.3(CNKSR1):c.851del (p.Pro284fs) rs781114848
NM_033056.4(PCDH15):c.4726C>T (p.Gln1576Ter) rs758204385
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.4(USH2A):c.7047G>A (p.Trp2349Ter)

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