ClinVar Miner

List of variants reported as likely pathogenic for perceptual disorders by Illumina Laboratory Services, Illumina

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_138691.3(TMC1):c.1763+3A>G rs370898981 0.00056
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val) rs143797113 0.00046
NM_016239.4(MYO15A):c.5978G>A (p.Arg1993Gln) rs117071200 0.00024
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys) rs139444207 0.00015
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His) rs184435771 0.00011
NM_001297.5(CNGB1):c.413-1G>A rs189234741 0.00010
NM_016239.4(MYO15A):c.6764+2T>A rs763975867 0.00009
NM_004183.4(BEST1):c.1415del (p.Leu472fs) rs752125512 0.00006
NM_019098.5(CNGB3):c.467C>T (p.Ser156Phe) rs139207764 0.00005
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter) rs779983752 0.00003
NM_001384474.1(LOXHD1):c.2497C>T (p.Arg833Ter) rs188119157 0.00003
NM_020461.4(TUBGCP6):c.2066-6A>G rs368765755 0.00003
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946 0.00001
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017 0.00001
NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter) rs1187839124 0.00001
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_001298.3(CNGA3):c.1280G>T (p.Arg427Leu) rs771172885
NM_001378609.3(OTOGL):c.850_851insCATCGCTATGTTTGCA (p.Asn284fs) rs1565920060
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe) rs62625014
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter) rs75949023
NM_006204.4(PDE6C):c.1336G>T (p.Glu446Ter)
NM_014053.4(FLVCR1):c.755del (p.Gly252fs) rs773064101
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs) rs769260536
NM_020461.4(TUBGCP6):c.4664del (p.Pro1555fs)
NM_194248.3(OTOF):c.3409-2A>C rs201613240
NM_201548.5(CERKL):c.1086_1087del (p.Cys362_Glu363delinsTer) rs776727320

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