ClinVar Miner

List of variants reported as pathogenic for Usher syndrome type 2 by Mendelics

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_007123.5(USH2A):c.1312_1327dup (p.Asn443fs) rs1415157305
NM_007123.5(USH2A):c.1829A>C (p.His610Pro) rs1571668556
NM_007123.5(USH2A):c.2534del (p.Leu845fs) rs1572088481
NM_007123.5(USH2A):c.402del (p.Cys135fs) rs1255535680
NM_007123.5(USH2A):c.4603dup (p.His1535fs) rs1572020896
NM_007123.5(USH2A):c.999_1000dup (p.Arg334fs) rs1571703770
NM_032119.4(ADGRV1):c.13655dup (p.Asn4553fs) rs765376986
NM_032119.4(ADGRV1):c.14467dup (p.Val4823fs) rs1581135405
NM_032119.4(ADGRV1):c.17668_17669del (p.Met5890fs) rs757696771
NM_032119.4(ADGRV1):c.3133del (p.Ala1045fs) rs1439933768
NM_206933.3(USH2A):c.11389+1G>A rs368770647
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.3(USH2A):c.2809+1G>A rs759433119
NM_206933.3(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875
NM_206933.3(USH2A):c.5278del (p.Asp1760fs) rs754374132
NM_206933.3(USH2A):c.7932G>A (p.Trp2644Ter) rs1571783742
NM_206933.3(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950
NM_206933.3(USH2A):c.9827C>A (p.Ser3276Ter) rs863224941

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