ClinVar Miner

List of variants reported as likely benign for Usher syndrome type 2 by Counsyl

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610 0.01377
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044 0.00419
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_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_206933.4(USH2A):c.1623G>A (p.Glu541=) rs146805130 0.00012
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_206933.4(USH2A):c.14184C>T (p.Cys4728=) rs200934092 0.00004
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_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_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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