ClinVar Miner

List of variants reported as pathogenic for autosomal recessive disease by DBGen Ocular Genomics

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_152384.3(BBS5):c.143-1G>C rs1054138918 0.00004
NM_000329.3(RPE65):c.1229C>A (p.Ser410Ter) rs1235881190 0.00001
NM_001378454.1(ALMS1):c.10816C>T (p.Arg3606Trp) rs1250097723 0.00001
NM_033028.5(BBS4):c.187C>T (p.Gln63Ter) rs1338469029 0.00001
NM_000180.4(GUCY2D):c.1773del (p.Asn591fs) rs794727952
NM_000180.4(GUCY2D):c.1957-2A>G rs945734402
NM_000180.4(GUCY2D):c.571C>T (p.Gln191Ter) rs768390959
NM_000180.4(GUCY2D):c.690_693del (p.Lys232fs) rs2151799567
NM_000260.4(MYO7A):c.1798-7_1800delinsATCGGCTGCT rs1954226902
NM_000329.3(RPE65):c.1443del (p.Asp482fs) rs2100806806
NM_000329.3(RPE65):c.1451-2del rs2100805351
NM_000329.3(RPE65):c.693C>A (p.Cys231Ter) rs2100819756
NM_000329.3(RPE65):c.785_787del (p.Phe262_Lys263delinsTer) rs2100819151
NM_000329.3(RPE65):c.859del rs2100818777
NM_001023570.4(IQCB1):c.1194G>A (p.Trp398Ter) rs1948821736
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter) rs201405662
NM_001378454.1(ALMS1):c.7367_7370del (p.Ile2456fs) rs2103793713
NM_001378454.1(ALMS1):c.8725C>T (p.Gln2909Ter) rs1188328539
NM_021728.4(OTX2):c.698del (p.Asn233fs) rs2139528052
NM_152384.3(BBS5):c.559_560insGA (p.Ile187fs) rs1683644409
NM_206933.4(USH2A):c.10699del (p.Gln3566_Leu3567insTer) rs1661659605
NM_206933.4(USH2A):c.5292dup (p.Leu1765fs) rs2102559650
NM_206933.4(USH2A):c.7454T>A (p.Leu2485Ter) rs2102469649
NM_206933.4(USH2A):c.8126_8127dup (p.Asn2710fs) rs768367348
NM_206933.4(USH2A):c.8341dup (p.Thr2781fs) rs2102451863
NM_206933.4(USH2A):c.9473del (p.Lys3158fs) rs2102796411

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