ClinVar Miner

List of variants studied for autosomal recessive disease by Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_206933.4(USH2A):c.5039A>G (p.Lys1680Arg) rs150982499 0.00023
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) rs387906980 0.00003
NM_032119.4(ADGRV1):c.2864C>A (p.Ser955Ter) rs746618021 0.00003
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) rs61752909 0.00001
NM_000329.3(RPE65):c.560G>A (p.Gly187Glu) rs752058510 0.00001
NM_006017.3(PROM1):c.1984-1G>T rs373680665 0.00001
NM_020366.4(RPGRIP1):c.2895+1G>T rs748072501 0.00001
NM_025114.4(CEP290):c.4705-1G>T rs777464278 0.00001
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile) rs121434337 0.00001
NM_206933.4(USH2A):c.14134-3169A>G rs998302546 0.00001
NM_206933.4(USH2A):c.907C>A (p.Arg303Ser) rs748465849 0.00001
NM_000180.4(GUCY2D):c.740A>G (p.His247Arg) rs768206746
NM_000260.4(MYO7A):c.1929dup (p.Pro644fs)
NM_000260.4(MYO7A):c.397dup (p.His133fs) rs111033187
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg) rs751769391
NM_000260.4(MYO7A):c.5510T>A (p.Leu1837His) rs1385324903
NM_000329.3(RPE65):c.1101A>G (p.Arg367=) rs1553152989
NM_001122769.3(LCA5):c.744_750del (p.Ser249fs) rs1769904494
NM_006017.3(PROM1):c.784+1G>A rs745704627
NM_018418.5(SPATA7):c.283C>T (p.Gln95Ter)
NM_018418.5(SPATA7):c.699_700del (p.Phe233_Ser234insTer) rs567890014
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
NM_025132.4(WDR19):c.3184-2A>C rs1020915921
NM_152443.3(RDH12):c.164C>T (p.Thr55Met) rs766631462
NM_152443.3(RDH12):c.2T>C (p.Met1Thr)
NM_152443.3(RDH12):c.505C>T (p.Arg169Trp) rs761167763
NM_201253.3(CRB1):c.3626_3627del (p.Val1209fs)
NM_206933.4(USH2A):c.14423G>A (p.Cys4808Tyr)
NM_206933.4(USH2A):c.15089C>A (p.Ser5030Ter) rs758660532
NM_206933.4(USH2A):c.2302T>C (p.Cys768Arg)
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter) rs1571783742
NM_206933.4(USH2A):c.9315del (p.Val3106fs)

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