ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome; Orofaciodigital syndrome I

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(?_12885698)_(13787227_?)del
NC_000023.10:g.(?_13753081)_(13765093_?)del
NC_000023.11:g.(?_13735052)_(13744539_?)del
NC_000023.11:g.(?_13735052)_(13769128_?)del
NC_000023.11:g.(?_13735066)_(13769113_?)del
NM_003611.3(OFD1):c.1099C>T (p.Arg367Ter) rs312262863
NM_003611.3(OFD1):c.111+2T>G rs312262809
NM_003611.3(OFD1):c.1114G>T (p.Glu372Ter) rs2518886198
NM_003611.3(OFD1):c.1117_1121del (p.Arg373fs) rs2518886212
NM_003611.3(OFD1):c.1193_1196del (p.Gln398fs) rs312262868
NM_003611.3(OFD1):c.121C>T (p.Arg41Ter) rs312262810
NM_003611.3(OFD1):c.1313C>G (p.Ser438Ter) rs1569141500
NM_003611.3(OFD1):c.158del (p.Val52_Leu53insTer)
NM_003611.3(OFD1):c.1644_1645del (p.Gln548fs)
NM_003611.3(OFD1):c.1651_1654del (p.Thr551fs) rs2518924877
NM_003611.3(OFD1):c.1743C>A (p.Cys581Ter) rs983722470
NM_003611.3(OFD1):c.1927G>T (p.Glu643Ter) rs1397283663
NM_003611.3(OFD1):c.1980dup (p.Ala661fs) rs2047883109
NM_003611.3(OFD1):c.198del (p.Ser67fs) rs2518758535
NM_003611.3(OFD1):c.2101C>T (p.Gln701Ter) rs2518940054
NM_003611.3(OFD1):c.2126_2129del (p.Glu709fs) rs312262890
NM_003611.3(OFD1):c.2395C>T (p.Arg799Ter) rs2518959653
NM_003611.3(OFD1):c.260A>G (p.Tyr87Cys) rs312262818
NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter) rs863225212
NM_003611.3(OFD1):c.2689dup (p.Arg897fs) rs1252017658
NM_003611.3(OFD1):c.2725C>T (p.Arg909Ter) rs1060500123
NM_003611.3(OFD1):c.2745_2746del (p.Tyr916fs) rs2147082213
NM_003611.3(OFD1):c.2789_2793del (p.Ile930fs) rs797044945
NM_003611.3(OFD1):c.308_312del (p.Glu103fs) rs2518759610
NM_003611.3(OFD1):c.382-10_382-6del rs2518777731
NM_003611.3(OFD1):c.400_403del (p.Glu134fs) rs312262830
NM_003611.3(OFD1):c.560dup (p.Tyr187Ter) rs1555902640
NM_003611.3(OFD1):c.565C>T (p.Gln189Ter) rs2047298129
NM_003611.3(OFD1):c.616_617del (p.Glu206fs) rs312262840
NM_003611.3(OFD1):c.710del (p.Lys237fs) rs312262845
NM_003611.3(OFD1):c.748G>T (p.Glu250Ter) rs1555902866
NM_003611.3(OFD1):c.794dup (p.Ser266fs) rs2047318775
NM_003611.3(OFD1):c.877_878del (p.Met293fs) rs312262858
NM_003611.3(OFD1):c.905_906del (p.Glu302fs) rs2146984250
NM_003611.3(OFD1):c.915_916del (p.Arg306fs) rs1569128307
NM_003611.3(OFD1):c.935+1G>C rs2518857883

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