ClinVar Miner

List of variants reported as uncertain significance for oculocerebrorenal syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 136
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HGVS dbSNP gnomAD frequency
NM_000276.4(OCRL):c.2138A>G (p.Lys713Arg) rs148646884 0.00006
NM_000276.4(OCRL):c.1467T>C (p.Ser489=) rs142398161 0.00004
NM_000276.4(OCRL):c.1943C>T (p.Ser648Leu) rs753260631 0.00004
NM_000276.4(OCRL):c.1602G>A (p.Gly534=) rs773214157 0.00003
NM_000276.4(OCRL):c.40A>G (p.Thr14Ala) rs371099243 0.00003
NM_000276.4(OCRL):c.1009C>T (p.Arg337Cys) rs137853831 0.00001
NM_000276.4(OCRL):c.1585G>A (p.Ala529Thr) rs1219583539 0.00001
NM_000276.4(OCRL):c.164T>C (p.Ile55Thr) rs1278754966 0.00001
NM_000276.4(OCRL):c.1889T>C (p.Val630Ala) rs768629676 0.00001
NM_000276.4(OCRL):c.2009C>T (p.Thr670Ile) rs1936370341 0.00001
NM_000276.4(OCRL):c.2115+4A>G rs1326476020 0.00001
NM_000276.4(OCRL):c.92C>T (p.Thr31Ile) rs762676076 0.00001
NC_000023.10:g.(?_128674417)_(128679034_?)dup
NC_000023.10:g.(?_128674417)_(128975921_?)dup
NC_000023.10:g.(?_128682520)_(128724247_?)dup
NC_000023.10:g.(?_128694507)_(128694648_?)del
NM_000276.4(OCRL):c.1031T>C (p.Val344Ala)
NM_000276.4(OCRL):c.1097A>G (p.Asn366Ser)
NM_000276.4(OCRL):c.109G>C (p.Gly37Arg) rs767054196
NM_000276.4(OCRL):c.1139T>C (p.Val380Ala)
NM_000276.4(OCRL):c.1220C>G (p.Pro407Arg)
NM_000276.4(OCRL):c.1282T>G (p.Cys428Gly)
NM_000276.4(OCRL):c.1355A>G (p.Gln452Arg) rs1936210819
NM_000276.4(OCRL):c.1361A>C (p.Asn454Thr)
NM_000276.4(OCRL):c.1367A>C (p.Gln456Pro) rs1569460215
NM_000276.4(OCRL):c.1367A>G (p.Gln456Arg)
NM_000276.4(OCRL):c.1369C>T (p.Arg457Cys) rs137853839
NM_000276.4(OCRL):c.1370G>C (p.Arg457Pro) rs1602791150
NM_000276.4(OCRL):c.1393G>C (p.Asp465His)
NM_000276.4(OCRL):c.1416G>T (p.Lys472Asn)
NM_000276.4(OCRL):c.1453C>T (p.Arg485Trp)
NM_000276.4(OCRL):c.1454G>C (p.Arg485Pro) rs993587899
NM_000276.4(OCRL):c.1466+4A>G rs1026438062
NM_000276.4(OCRL):c.1467-3C>G rs779822028
NM_000276.4(OCRL):c.1513G>A (p.Gly505Arg)
NM_000276.4(OCRL):c.1514G>A (p.Gly505Glu) rs1569460717
NM_000276.4(OCRL):c.1522G>A (p.Val508Ile)
NM_000276.4(OCRL):c.153T>A (p.His51Gln) rs1392543051
NM_000276.4(OCRL):c.1595A>G (p.His532Arg)
NM_000276.4(OCRL):c.1602+5A>G
NM_000276.4(OCRL):c.163A>C (p.Ile55Leu)
NM_000276.4(OCRL):c.163A>G (p.Ile55Val)
NM_000276.4(OCRL):c.1655G>A (p.Arg552His) rs2124417872
NM_000276.4(OCRL):c.1666A>G (p.Arg556Gly)
NM_000276.4(OCRL):c.1671G>A (p.Met557Ile)
NM_000276.4(OCRL):c.1704C>A (p.Ser568Arg)
NM_000276.4(OCRL):c.172A>G (p.Ile58Val)
NM_000276.4(OCRL):c.1754A>G (p.Glu585Gly)
NM_000276.4(OCRL):c.1781A>G (p.Gln594Arg)
NM_000276.4(OCRL):c.179G>A (p.Ser60Asn)
NM_000276.4(OCRL):c.181C>T (p.His61Tyr) rs2124388046
NM_000276.4(OCRL):c.1843C>T (p.Leu615Phe)
NM_000276.4(OCRL):c.1882G>A (p.Glu628Lys)
NM_000276.4(OCRL):c.1898C>A (p.Ser633Tyr)
NM_000276.4(OCRL):c.1898C>T (p.Ser633Phe)
NM_000276.4(OCRL):c.1927G>C (p.Val643Leu)
NM_000276.4(OCRL):c.1948G>A (p.Glu650Lys)
NM_000276.4(OCRL):c.1972G>A (p.Val658Ile)
NM_000276.4(OCRL):c.1988G>T (p.Arg663Leu) rs745885693
NM_000276.4(OCRL):c.200-3del
NM_000276.4(OCRL):c.2086G>A (p.Glu696Lys) rs2124419096
NM_000276.4(OCRL):c.2093C>G (p.Pro698Arg)
NM_000276.4(OCRL):c.2139+3A>G
NM_000276.4(OCRL):c.2161G>A (p.Val721Ile)
NM_000276.4(OCRL):c.2214C>G (p.Ile738Met)
NM_000276.4(OCRL):c.2256+6T>C
NM_000276.4(OCRL):c.2259G>C (p.Glu753Asp)
NM_000276.4(OCRL):c.2281A>C (p.Met761Leu)
NM_000276.4(OCRL):c.2292G>T (p.Glu764Asp)
NM_000276.4(OCRL):c.2341C>G (p.Pro781Ala)
NM_000276.4(OCRL):c.2342-10G>A
NM_000276.4(OCRL):c.2376C>G (p.Leu792=)
NM_000276.4(OCRL):c.238+3G>A
NM_000276.4(OCRL):c.238+6T>C
NM_000276.4(OCRL):c.2410T>C (p.Cys804Arg)
NM_000276.4(OCRL):c.2414A>T (p.Tyr805Phe)
NM_000276.4(OCRL):c.2418_2419delinsTA (p.Glu806_Leu807delinsAspMet) rs2124429709
NM_000276.4(OCRL):c.2429G>A (p.Arg810Gln)
NM_000276.4(OCRL):c.2449G>T (p.Asp817Tyr)
NM_000276.4(OCRL):c.2456G>A (p.Arg819Gln)
NM_000276.4(OCRL):c.2456G>C (p.Arg819Pro)
NM_000276.4(OCRL):c.2469+4G>T
NM_000276.4(OCRL):c.2470-4A>G
NM_000276.4(OCRL):c.2581G>T (p.Ala861Ser)
NM_000276.4(OCRL):c.2582-3T>A rs2124430712
NM_000276.4(OCRL):c.2587C>G (p.Leu863Val) rs2124430719
NM_000276.4(OCRL):c.2593A>G (p.Thr865Ala)
NM_000276.4(OCRL):c.2620A>G (p.Asn874Asp)
NM_000276.4(OCRL):c.2621A>G (p.Asn874Ser)
NM_000276.4(OCRL):c.2635C>T (p.Gln879Ter) rs1556359544
NM_000276.4(OCRL):c.2657G>A (p.Arg886His)
NM_000276.4(OCRL):c.2704_2705del (p.Ter902ArgextTer?)
NM_000276.4(OCRL):c.298G>A (p.Asp100Asn)
NM_000276.4(OCRL):c.29A>T (p.Gln10Leu)
NM_000276.4(OCRL):c.332T>C (p.Val111Ala) rs2124401168
NM_000276.4(OCRL):c.344A>G (p.Gln115Arg)
NM_000276.4(OCRL):c.349+6T>C
NM_000276.4(OCRL):c.350-6C>G
NM_000276.4(OCRL):c.350-7T>A
NM_000276.4(OCRL):c.370C>G (p.Pro124Ala) rs2124401648
NM_000276.4(OCRL):c.430G>T (p.Val144Phe) rs1283513096
NM_000276.4(OCRL):c.437C>T (p.Ser146Leu)
NM_000276.4(OCRL):c.43G>C (p.Val15Leu) rs2071724829
NM_000276.4(OCRL):c.440G>C (p.Gly147Ala) rs2124402286
NM_000276.4(OCRL):c.461A>G (p.Asn154Ser)
NM_000276.4(OCRL):c.467C>G (p.Ser156Cys)
NM_000276.4(OCRL):c.520C>T (p.His174Tyr)
NM_000276.4(OCRL):c.548C>T (p.Ser183Leu)
NM_000276.4(OCRL):c.561-8T>G
NM_000276.4(OCRL):c.561G>A (p.Met187Ile) rs916507337
NM_000276.4(OCRL):c.569G>A (p.Arg190His) rs776946722
NM_000276.4(OCRL):c.569G>C (p.Arg190Pro)
NM_000276.4(OCRL):c.571G>C (p.Glu191Gln)
NM_000276.4(OCRL):c.574A>G (p.Lys192Glu)
NM_000276.4(OCRL):c.586A>G (p.Asn196Asp)
NM_000276.4(OCRL):c.587A>C (p.Asn196Thr)
NM_000276.4(OCRL):c.601A>G (p.Lys201Glu)
NM_000276.4(OCRL):c.614C>A (p.Thr205Asn)
NM_000276.4(OCRL):c.625C>T (p.Leu209Phe)
NM_000276.4(OCRL):c.662G>T (p.Gly221Val)
NM_000276.4(OCRL):c.722+4A>G
NM_000276.4(OCRL):c.722G>A (p.Arg241Lys)
NM_000276.4(OCRL):c.743A>G (p.Asn248Ser)
NM_000276.4(OCRL):c.746T>G (p.Val249Gly) rs1602783417
NM_000276.4(OCRL):c.74G>C (p.Arg25Pro)
NM_000276.4(OCRL):c.775G>C (p.Glu259Gln)
NM_000276.4(OCRL):c.799A>G (p.Asn267Asp)
NM_000276.4(OCRL):c.809A>G (p.Asp270Gly) rs1936133194
NM_000276.4(OCRL):c.934A>G (p.Lys312Glu) rs1936141520
NM_000276.4(OCRL):c.946C>G (p.Leu316Val)
NM_000276.4(OCRL):c.94C>G (p.Leu32Val)
NM_000276.4(OCRL):c.966G>A (p.Met322Ile)
NM_000276.4(OCRL):c.970CTT[1] (p.Leu325del) rs727504056
NM_000276.4(OCRL):c.982G>A (p.Ala328Thr)
NM_000276.4(OCRL):c.986G>A (p.Arg329Lys)
NM_000276.4(OCRL):c.998G>T (p.Cys333Phe) rs2124405824

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