ClinVar Miner

List of variants reported as pathogenic for autosomal recessive disease by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter) rs121908140 0.00089
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) rs62653011 0.00008
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600 0.00008
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp) rs61752896 0.00002
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln) rs750889782 0.00001
NM_022124.6(CDH23):c.3428dup (p.His1143fs) rs1253419936 0.00001
NM_152384.3(BBS5):c.209-2A>G rs1477098739 0.00001
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) rs750962965
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs) rs745340459
NM_006017.3(PROM1):c.1462G>T (p.Gly488Ter) rs1560449207
NM_006915.3(RP2):c.486_490del (p.Gly163fs) rs1569531639
NM_014249.4(NR2E3):c.1171_1172del (p.Phe391fs) rs574936510
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs) rs775796581
NM_019098.5(CNGB3):c.991-3T>G rs773372519
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) rs765513105
NM_022124.6(CDH23):c.6285dup (p.Glu2096Ter) rs1564796487
NM_024649.5(BBS1):c.1405C>T (p.Gln469Ter) rs1565289799
NM_152384.3(BBS5):c.258+2T>C rs1559122157
NM_206933.2(USH2A):c.(784+1_785-1)_(5572+1_5573-1)dup
NM_206933.2(USH2A):c.[2299del;4714C>T]
NM_206933.4(USH2A):c.7501C>T (p.Gln2501Ter) rs1558151555

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