ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive Robinow syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_004560.4(ROR2):c.1583G>A (p.Arg528Gln) rs142215888 0.00108
NM_004560.4(ROR2):c.1670C>T (p.Ser557Leu) rs56099091 0.00098
NM_004560.4(ROR2):c.*553G>A rs769673512 0.00068
NM_004560.4(ROR2):c.1716G>A (p.Ser572=) rs139654946 0.00056
NM_004560.4(ROR2):c.*369G>C rs555728388 0.00048
NM_004560.4(ROR2):c.2684A>G (p.Asp895Gly) rs149826387 0.00038
NM_004560.4(ROR2):c.730C>T (p.Arg244Trp) rs148340413 0.00035
NM_004560.4(ROR2):c.1491G>A (p.Pro497=) rs146347005 0.00029
NM_004560.4(ROR2):c.*135G>T rs774621355 0.00026
NM_004560.4(ROR2):c.-121A>C rs555789981 0.00026
NM_004560.4(ROR2):c.1959G>A (p.Leu653=) rs144549032 0.00024
NM_004560.4(ROR2):c.-102G>T rs932588990 0.00022
NM_004560.4(ROR2):c.568A>G (p.Thr190Ala) rs34574788 0.00019
NM_004560.4(ROR2):c.1956G>A (p.Ser652=) rs374939956 0.00015
NM_004560.4(ROR2):c.-36A>G rs756061621 0.00014
NM_004560.4(ROR2):c.1317G>A (p.Pro439=) rs150661792 0.00014
NM_004560.4(ROR2):c.1307C>T (p.Ala436Val) rs149842671 0.00011
NM_004560.4(ROR2):c.2190C>T (p.Asn730=) rs372509332 0.00011
NM_004560.4(ROR2):c.*38G>A rs367597436 0.00010
NM_004560.4(ROR2):c.146G>T (p.Gly49Val) rs201991252 0.00010
NM_004560.4(ROR2):c.155G>A (p.Gly52Asp) rs201425107 0.00009
NM_004560.4(ROR2):c.1416G>A (p.Ala472=) rs201064212 0.00008
NM_004560.4(ROR2):c.1448G>A (p.Arg483Gln) rs767474960 0.00007
NM_004560.4(ROR2):c.1756G>A (p.Ala586Thr) rs142386294 0.00006
NM_004560.4(ROR2):c.2034C>T (p.Tyr678=) rs199681534 0.00006
NM_004560.4(ROR2):c.2212C>T (p.Arg738Cys) rs56231927 0.00006
NM_004560.4(ROR2):c.678C>T (p.Phe226=) rs202159869 0.00006
NM_004560.4(ROR2):c.760G>A (p.Asp254Asn) rs374492597 0.00006
NM_004560.4(ROR2):c.*433C>T rs919431237 0.00005
NM_004560.4(ROR2):c.*46C>T rs759105926 0.00005
NM_004560.4(ROR2):c.*520C>T rs367760102 0.00005
NM_004560.4(ROR2):c.*487C>G rs970063320 0.00004
NM_004560.4(ROR2):c.*558C>T rs571058325 0.00004
NM_004560.4(ROR2):c.153C>T (p.Asp51=) rs572950289 0.00004
NM_004560.4(ROR2):c.1596A>G (p.Gln532=) rs528393492 0.00004
NM_004560.4(ROR2):c.2277G>A (p.Ala759=) rs369491865 0.00004
NM_004560.4(ROR2):c.2649G>A (p.Met883Ile) rs373037095 0.00004
NM_004560.4(ROR2):c.702C>T (p.Phe234=) rs559697443 0.00004
NM_004560.4(ROR2):c.864G>A (p.Ala288=) rs142926399 0.00004
NM_004560.4(ROR2):c.1552C>T (p.Arg518Trp) rs148896640 0.00003
NM_004560.4(ROR2):c.1184-10T>C rs184670366 0.00002
NM_004560.4(ROR2):c.-154G>C rs1057515684 0.00001
NM_004560.4(ROR2):c.-66G>T rs1463989966 0.00001
NM_004560.4(ROR2):c.-90A>G rs1587871077 0.00001
NM_004560.4(ROR2):c.1279A>G (p.Met427Val) rs148390451 0.00001
NM_004560.4(ROR2):c.1300G>A (p.Ala434Thr) rs144447132 0.00001
NM_004560.4(ROR2):c.1566G>T (p.Arg522=) rs755724416 0.00001
NM_004560.4(ROR2):c.1820C>T (p.Ser607Phe) rs769849104 0.00001
NM_004560.4(ROR2):c.2382G>A (p.Pro794=) rs532042443 0.00001
NM_004560.4(ROR2):c.2458C>G (p.Pro820Ala) rs1253369894 0.00001
NM_004560.4(ROR2):c.*106C>T rs531108921
NM_004560.4(ROR2):c.*107G>C rs189697737
NM_004560.4(ROR2):c.*125C>A rs1836869944
NM_004560.4(ROR2):c.*180C>A rs542396423
NM_004560.4(ROR2):c.*398G>C rs941756148
NM_004560.4(ROR2):c.*571G>C rs1836854224
NM_004560.4(ROR2):c.*682C>G rs1057515678
NM_004560.4(ROR2):c.-118C>T rs1832134851
NM_004560.4(ROR2):c.-135G>C rs1057515683
NM_004560.4(ROR2):c.1103C>G (p.Pro368Arg) rs1716064320
NM_004560.4(ROR2):c.1234A>G (p.Ile412Val) rs1057515681
NM_004560.4(ROR2):c.1347C>G (p.Ser449Arg) rs1837043278
NM_004560.4(ROR2):c.1644C>A (p.Pro548=) rs1836960066
NM_004560.4(ROR2):c.1720G>T (p.Val574Leu) rs140579674
NM_004560.4(ROR2):c.179A>C (p.Tyr60Ser) rs768160554
NM_004560.4(ROR2):c.1870T>A (p.Tyr624Asn) rs1836942190
NM_004560.4(ROR2):c.1995G>C (p.Met665Ile) rs763115397
NM_004560.4(ROR2):c.2208G>T (p.Arg736=) rs1587653081
NM_004560.4(ROR2):c.2242G>T (p.Ala748Ser) rs1836916256
NM_004560.4(ROR2):c.2314T>A (p.Ser772Thr) rs1057515680
NM_004560.4(ROR2):c.2782G>A (p.Asp928Asn) rs199855010
NM_004560.4(ROR2):c.722C>A (p.Ala241Glu) rs771096772
NM_004560.4(ROR2):c.731G>A (p.Arg244Gln) rs55737262
NM_004560.4(ROR2):c.886G>A (p.Asp296Asn) rs867038828
NM_004560.4(ROR2):c.938-15G>A rs1837231210
NM_004560.4(ROR2):c.989C>T (p.Thr330Ile) rs1837228232

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