ClinVar Miner

List of variants reported as likely benign for Usher syndrome by Counsyl

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390 0.01583
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610 0.01377
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387 0.00699
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044 0.00419
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185 0.00386
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser) rs111033394 0.00378
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287 0.00356
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363 0.00325
NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=) rs201834743 0.00069
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463 0.00056
NM_000260.4(MYO7A):c.5559C>T (p.His1853=) rs373612656 0.00049
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln) rs111033409 0.00034
NM_206933.4(USH2A):c.1550+10T>C rs200728788 0.00021
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=) rs147930567 0.00021
NM_153676.4(USH1C):c.1233C>T (p.Tyr411=) rs377439949 0.00016
NM_153676.4(USH1C):c.2617G>A (p.Val873Met) rs201533059 0.00014
NM_000260.4(MYO7A):c.1506G>A (p.Lys502=) rs181126043 0.00013
NM_206933.4(USH2A):c.1623G>A (p.Glu541=) rs146805130 0.00012
NM_153676.4(USH1C):c.2124T>C (p.Ser708=) rs369021714 0.00009
NM_000260.4(MYO7A):c.2421C>T (p.His807=) rs782218928 0.00008
NM_153676.4(USH1C):c.2590C>T (p.Arg864Ter) rs767767573 0.00008
NM_206933.4(USH2A):c.1143+12C>T rs727505167 0.00006
NM_206933.4(USH2A):c.14511C>T (p.Ile4837=) rs139847770 0.00006
NM_206933.4(USH2A):c.6325+7390C>T rs207461108 0.00006
NM_000260.4(MYO7A):c.2724C>T (p.Asp908=) rs199979876 0.00005
NM_206933.4(USH2A):c.14184C>T (p.Cys4728=) rs200934092 0.00004
NM_000260.4(MYO7A):c.1368C>T (p.Phe456=) rs559209306 0.00003
NM_000260.4(MYO7A):c.3669C>T (p.Tyr1223=) rs727504631 0.00003
NM_153676.4(USH1C):c.1548G>A (p.Pro516=) rs780428813 0.00003
NM_153676.4(USH1C):c.1822C>T (p.Pro608Ser) rs727505247 0.00003
NM_174878.3(CLRN1):c.254-2132C>T rs758741442 0.00003
NM_001384140.1(PCDH15):c.4368-3204C>T rs375657329 0.00002
NM_153676.4(USH1C):c.2418C>T (p.Asn806=) rs397517876 0.00002
NM_206933.4(USH2A):c.10344A>G (p.Glu3448=) rs760725818 0.00002
NM_206933.4(USH2A):c.4983T>C (p.Asp1661=) rs111033532 0.00002
NM_206933.4(USH2A):c.6141G>A (p.Leu2047=) rs727505165 0.00002
NM_206933.4(USH2A):c.9342A>G (p.Pro3114=) rs181961185 0.00002
NM_000260.4(MYO7A):c.1956C>T (p.Cys652=) rs367693437 0.00001
NM_000260.4(MYO7A):c.2850G>A (p.Leu950=) rs397516297 0.00001
NM_000260.4(MYO7A):c.5637-173C>T rs207472020 0.00001
NM_000260.4(MYO7A):c.6345C>T (p.Phe2115=) rs397516329 0.00001
NM_001384140.1(PCDH15):c.3501+13A>G rs727503365 0.00001
NM_001384140.1(PCDH15):c.4368-3207_4368-3204del rs1554821194 0.00001
NM_153676.4(USH1C):c.1531-11A>G rs397517872 0.00001
NM_153676.4(USH1C):c.2547-1G>T rs571304936 0.00001
NM_153676.4(USH1C):c.582C>T (p.Gly194=) rs397517882 0.00001
NM_174878.3(CLRN1):c.254-2057T>C rs778574679 0.00001
NM_174878.3(CLRN1):c.254-2082T>G rs963890618 0.00001
NM_174878.3(CLRN1):c.254-2111del rs1211060908 0.00001
NM_206933.4(USH2A):c.10524C>A (p.Thr3508=) rs397517967 0.00001
NM_206933.4(USH2A):c.14817G>A (p.Ser4939=) rs397517992 0.00001
NM_206933.4(USH2A):c.14928C>G (p.Gly4976=) rs397517995 0.00001
NM_206933.4(USH2A):c.15105A>C (p.Thr5035=) rs762610249 0.00001
NM_206933.4(USH2A):c.6969A>C (p.Arg2323=) rs397518028 0.00001
NM_206933.4(USH2A):c.8265T>C (p.Leu2755=) rs727505274 0.00001
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His) rs111033416
NM_001384140.1(PCDH15):c.158-16930T>C rs207470941
NM_001384140.1(PCDH15):c.4368-3205G>A rs776152870
NM_001384140.1(PCDH15):c.4368-3205del rs1554821197
NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del) rs373916538
NM_153676.4(USH1C):c.1840C>T (p.Gln614Ter) rs1554956913
NM_153676.4(USH1C):c.1840del (p.Gln614fs) rs1554956916
NM_153676.4(USH1C):c.2655+12G>A rs727504552
NM_174878.3(CLRN1):c.336C>G (p.Thr112=) rs565400473
NM_206933.4(USH2A):c.15144G>A (p.Ala5048=) rs397517998
NM_206933.4(USH2A):c.1722T>G (p.Pro574=) rs397518002
NM_206933.4(USH2A):c.2775T>C (p.Asn925=) rs779331611
NM_206933.4(USH2A):c.3158-47_3158-17del rs1553315049
NM_206933.4(USH2A):c.6087A>T (p.Ala2029=) rs727503726
NM_206933.4(USH2A):c.6486G>A (p.Gln2162=) rs397518025
NM_206933.4(USH2A):c.6513G>C (p.Gly2171=) rs876657629
NM_206933.4(USH2A):c.6806-9473C>A rs207461105
NM_206933.4(USH2A):c.8499T>C (p.Ser2833=) rs753719500

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