ClinVar Miner

List of variants studied for Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 314
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HGVS dbSNP gnomAD frequency
NM_000278.5(PAX2):c.909A>C (p.Pro303=) rs1800898 0.40586
NM_000278.5(PAX2):c.798C>T (p.Asn266=) rs1800897 0.12916
NM_000278.5(PAX2):c.792+9G>A rs79552202 0.00974
NM_000278.5(PAX2):c.360C>T (p.Ala120=) rs41291450 0.00270
NM_000278.5(PAX2):c.932C>T (p.Ala311Val) rs78738655 0.00126
NM_000278.5(PAX2):c.213-8C>T rs369615430 0.00101
NM_000278.5(PAX2):c.819G>C (p.Leu273=) rs144433354 0.00090
NM_000278.5(PAX2):c.212+12G>A rs546505132 0.00048
NM_000278.5(PAX2):c.354C>T (p.Leu118=) rs142934523 0.00040
NM_000278.5(PAX2):c.491C>A (p.Thr164Asn) rs370214925 0.00026
NM_000278.5(PAX2):c.963C>T (p.His321=) rs138750534 0.00024
NM_000278.5(PAX2):c.867C>G (p.Asn289Lys) rs199724772 0.00019
NM_000278.5(PAX2):c.496+9G>T rs577483360 0.00016
NM_000278.5(PAX2):c.981G>A (p.Gln327=) rs149654780 0.00016
NM_000278.5(PAX2):c.1022-19C>T rs201800775 0.00014
NM_000278.5(PAX2):c.411-11C>T rs541291517 0.00012
NM_000278.5(PAX2):c.219C>T (p.Tyr73=) rs139724326 0.00009
NM_000278.5(PAX2):c.357G>T (p.Leu119=) rs543423053 0.00009
NM_000278.5(PAX2):c.616+6G>C rs180903301 0.00009
NM_000278.5(PAX2):c.117G>T (p.Gln39His) rs141576824 0.00008
NM_000278.5(PAX2):c.1091G>A (p.Ser364Asn) rs138490772 0.00007
NM_000278.5(PAX2):c.213-5C>T rs767757944 0.00007
NM_000278.5(PAX2):c.529G>A (p.Ala177Thr) rs749684940 0.00007
NM_000278.5(PAX2):c.1021+193G>A rs145911423 0.00006
NM_000278.5(PAX2):c.213-20C>T rs769582983 0.00006
NM_000278.5(PAX2):c.410+16G>A rs372153559 0.00006
NM_000278.5(PAX2):c.528C>T (p.Ser176=) rs369240774 0.00006
NM_000278.5(PAX2):c.920-12G>A rs775815946 0.00006
NM_000278.5(PAX2):c.411-10G>A rs753261521 0.00005
NM_000278.5(PAX2):c.478G>A (p.Ala160Thr) rs201383632 0.00005
NM_000278.5(PAX2):c.563A>G (p.Asn188Ser) rs767995614 0.00005
NM_000278.5(PAX2):c.739C>T (p.Arg247Cys) rs756570535 0.00005
NM_000278.5(PAX2):c.756C>T (p.Asp252=) rs200804078 0.00005
NM_000278.5(PAX2):c.584G>A (p.Arg195His) rs201880460 0.00004
NM_000278.5(PAX2):c.641A>G (p.Asn214Ser) rs148402788 0.00004
NM_000278.5(PAX2):c.1058A>C (p.Gln353Pro) rs201021899 0.00003
NM_000278.5(PAX2):c.220G>A (p.Glu74Lys) rs754146050 0.00003
NM_000278.5(PAX2):c.418C>A (p.Arg140=) rs1217241110 0.00003
NM_000278.5(PAX2):c.43+13G>T rs763464165 0.00003
NM_000278.5(PAX2):c.43+9C>A rs747364450 0.00003
NM_000278.5(PAX2):c.793-12C>G rs781099849 0.00003
NM_000278.5(PAX2):c.954C>T (p.Tyr318=) rs78122364 0.00003
NM_000278.5(PAX2):c.96C>G (p.Pro32=) rs757633295 0.00003
NM_000278.5(PAX2):c.1021+181C>G rs760189898 0.00002
NM_000278.5(PAX2):c.249C>T (p.Ile83=) rs745467413 0.00002
NM_000278.5(PAX2):c.445C>T (p.Pro149Ser) rs1401507282 0.00002
NM_000278.5(PAX2):c.976G>A (p.Gly326Ser) rs375804552 0.00002
NM_000278.5(PAX2):c.1021+137C>T rs1848496928 0.00001
NM_000278.5(PAX2):c.1021+141C>A rs530216201 0.00001
NM_000278.5(PAX2):c.1021+183T>C rs1211217411 0.00001
NM_000278.5(PAX2):c.1021+233A>T rs606231415 0.00001
NM_000278.5(PAX2):c.1029G>C (p.Glu343Asp) rs370756373 0.00001
NM_000278.5(PAX2):c.103G>A (p.Asp35Asn) rs968200750 0.00001
NM_000278.5(PAX2):c.120C>T (p.Arg40=) rs747639516 0.00001
NM_000278.5(PAX2):c.186C>T (p.His62=) rs765130310 0.00001
NM_000278.5(PAX2):c.212+7G>T rs745578557 0.00001
NM_000278.5(PAX2):c.213-17C>T rs1158987891 0.00001
NM_000278.5(PAX2):c.276G>A (p.Thr92=) rs775423295 0.00001
NM_000278.5(PAX2):c.320C>T (p.Pro107Leu) rs774231216 0.00001
NM_000278.5(PAX2):c.452C>A (p.Pro151Gln) rs199919058 0.00001
NM_000278.5(PAX2):c.477C>T (p.Thr159=) rs201775091 0.00001
NM_000278.5(PAX2):c.482C>T (p.Pro161Leu) rs1403302124 0.00001
NM_000278.5(PAX2):c.506C>T (p.Thr169Met) rs758091898 0.00001
NM_000278.5(PAX2):c.616+20T>C rs779199563 0.00001
NM_000278.5(PAX2):c.616+4G>A rs1490836600 0.00001
NM_000278.5(PAX2):c.735T>C (p.Phe245=) rs746316295 0.00001
NM_000278.5(PAX2):c.740G>A (p.Arg247His) rs747639879 0.00001
NM_000278.5(PAX2):c.757G>A (p.Val253Ile) rs770703982 0.00001
NM_000278.5(PAX2):c.775C>A (p.His259Asn) rs896457846 0.00001
NM_000278.5(PAX2):c.792+19G>A rs765072775 0.00001
NM_000278.5(PAX2):c.793-3C>T rs1291270344 0.00001
NM_000278.5(PAX2):c.803A>T (p.Tyr268Phe) rs548691376 0.00001
NM_000278.5(PAX2):c.845C>T (p.Ser282Leu) rs757989097 0.00001
NM_000278.5(PAX2):c.885C>T (p.Asn295=) rs768564591 0.00001
NM_000278.5(PAX2):c.907C>G (p.Pro303Ala) rs761764477 0.00001
NM_000278.5(PAX2):c.945G>C (p.Leu315=) rs1365331619 0.00001
NM_000278.5(PAX2):c.964G>A (p.Val322Met) rs777775098 0.00001
NC_000010.10:g.(?_102283594)_(102510668_?)del
NC_000010.10:g.(?_102510431)_(102510668_?)del
NC_000010.10:g.(?_102539235)_(102569013_?)dup
NC_000010.10:g.(?_102566167)_(102566382_?)del
NC_000010.10:g.(?_102566167)_(102566382_?)dup
NM_000278.5(PAX2):c.*52C>G
NM_000278.5(PAX2):c.1001C>A (p.Thr334Asn)
NM_000278.5(PAX2):c.1021+135G>C rs2133985034
NM_000278.5(PAX2):c.1021+143C>G
NM_000278.5(PAX2):c.1021+167C>T
NM_000278.5(PAX2):c.1021+183T>G
NM_000278.5(PAX2):c.1021+192C>G
NM_000278.5(PAX2):c.1021+192C>T
NM_000278.5(PAX2):c.1021+196G>A
NM_000278.5(PAX2):c.1021+210A>G
NM_000278.5(PAX2):c.1021+218C>T rs2133985216
NM_000278.5(PAX2):c.1021+235T>C rs1848500707
NM_000278.5(PAX2):c.1021+236G>C
NM_000278.5(PAX2):c.1021+238A>G rs2133985249
NM_000278.5(PAX2):c.1021+243A>G
NM_000278.5(PAX2):c.1021+247C>T
NM_000278.5(PAX2):c.1022-18T>A rs1429796359
NM_000278.5(PAX2):c.1022-4G>A rs766520044
NM_000278.5(PAX2):c.1022G>T (p.Gly341Val)
NM_000278.5(PAX2):c.1023G>T (p.Gly341=)
NM_000278.5(PAX2):c.1026C>T (p.Ser342=)
NM_000278.5(PAX2):c.102C>T (p.Pro34=)
NM_000278.5(PAX2):c.1035C>T (p.Ser345=)
NM_000278.5(PAX2):c.103G>C (p.Asp35His)
NM_000278.5(PAX2):c.1041C>T (p.Asn347=)
NM_000278.5(PAX2):c.106G>A (p.Val36Met)
NM_000278.5(PAX2):c.1070A>G (p.Tyr357Cys) rs2133989654
NM_000278.5(PAX2):c.1087T>G (p.Phe363Val)
NM_000278.5(PAX2):c.1096C>T (p.Pro366Ser)
NM_000278.5(PAX2):c.1140_1142= (p.Arg380_Gly381=)
NM_000278.5(PAX2):c.115del (p.Gln39fs)
NM_000278.5(PAX2):c.117_121del (p.Gln39fs)
NM_000278.5(PAX2):c.123C>T (p.Ile41=) rs771654993
NM_000278.5(PAX2):c.13T>A (p.Cys5Ser)
NM_000278.5(PAX2):c.144T>C (p.Gly48=)
NM_000278.5(PAX2):c.148C>A (p.Arg50=)
NM_000278.5(PAX2):c.159C>T (p.Asp53=) rs2133833930
NM_000278.5(PAX2):c.165C>T (p.Ser55=) rs1845370334
NM_000278.5(PAX2):c.168G>A (p.Arg56=)
NM_000278.5(PAX2):c.174G>A (p.Leu58=) rs1386738065
NM_000278.5(PAX2):c.174G>T (p.Leu58=)
NM_000278.5(PAX2):c.177G>A (p.Arg59=)
NM_000278.5(PAX2):c.182G>A (p.Ser61Asn) rs2133833987
NM_000278.5(PAX2):c.194T>C (p.Val65Ala)
NM_000278.5(PAX2):c.198C>G (p.Ser66Arg)
NM_000278.5(PAX2):c.204C>T (p.Ile68=)
NM_000278.5(PAX2):c.212+18G>A
NM_000278.5(PAX2):c.212+1G>T
NM_000278.5(PAX2):c.212+5G>A
NM_000278.5(PAX2):c.213-11T>C
NM_000278.5(PAX2):c.213-13T>C
NM_000278.5(PAX2):c.213-16G>A
NM_000278.5(PAX2):c.213-19G>A
NM_000278.5(PAX2):c.213-2A>G
NM_000278.5(PAX2):c.213-4G>T rs750607196
NM_000278.5(PAX2):c.213-8del
NM_000278.5(PAX2):c.220G>T (p.Glu74Ter) rs754146050
NM_000278.5(PAX2):c.221_223del (p.Glu74_Thr75delinsAla)
NM_000278.5(PAX2):c.221_226dup (p.Glu74_Thr75dup) rs387906530
NM_000278.5(PAX2):c.225C>T (p.Thr75=)
NM_000278.5(PAX2):c.225del (p.Gly76fs)
NM_000278.5(PAX2):c.227dup (p.Ser77fs)
NM_000278.5(PAX2):c.234C>A (p.Ile78=)
NM_000278.5(PAX2):c.239C>T (p.Pro80Leu) rs1554856032
NM_000278.5(PAX2):c.240G>A (p.Pro80=) rs576772135
NM_000278.5(PAX2):c.242del (p.Gly81fs)
NM_000278.5(PAX2):c.244G>T (p.Val82Leu) rs2133836298
NM_000278.5(PAX2):c.248T>C (p.Ile83Thr) rs2133836322
NM_000278.5(PAX2):c.250G>A (p.Gly84Ser) rs2133836340
NM_000278.5(PAX2):c.272C>T (p.Ala91Val) rs1589813617
NM_000278.5(PAX2):c.273G>A (p.Ala91=)
NM_000278.5(PAX2):c.273G>C (p.Ala91=)
NM_000278.5(PAX2):c.274_288del (p.Thr92_Val96del)
NM_000278.5(PAX2):c.285G>A (p.Val95=) rs749059507
NM_000278.5(PAX2):c.297T>G (p.Ile99Met)
NM_000278.5(PAX2):c.310C>A (p.Arg104=)
NM_000278.5(PAX2):c.310C>T (p.Arg104Ter) rs922533851
NM_000278.5(PAX2):c.311G>A (p.Arg104Gln)
NM_000278.5(PAX2):c.326T>C (p.Met109Thr)
NM_000278.5(PAX2):c.327G>A (p.Met109Ile)
NM_000278.5(PAX2):c.334del (p.Trp112fs)
NM_000278.5(PAX2):c.337G>A (p.Glu113Lys) rs1481932003
NM_000278.5(PAX2):c.343C>T (p.Arg115Ter) rs1845412705
NM_000278.5(PAX2):c.344G>C (p.Arg115Pro)
NM_000278.5(PAX2):c.349C>T (p.Arg117Trp)
NM_000278.5(PAX2):c.350G>A (p.Arg117Gln)
NM_000278.5(PAX2):c.350G>C (p.Arg117Pro) rs773306707
NM_000278.5(PAX2):c.352C>G (p.Leu118Val)
NM_000278.5(PAX2):c.356T>C (p.Leu119Pro) rs1589813707
NM_000278.5(PAX2):c.361G>A (p.Glu121Lys)
NM_000278.5(PAX2):c.361G>C (p.Glu121Gln) rs1162043378
NM_000278.5(PAX2):c.361G>T (p.Glu121Ter)
NM_000278.5(PAX2):c.367A>G (p.Ile123Val)
NM_000278.5(PAX2):c.36G>C (p.Ala12=)
NM_000278.5(PAX2):c.374A>T (p.Asp125Val) rs2133836581
NM_000278.5(PAX2):c.382A>G (p.Thr128Ala)
NM_000278.5(PAX2):c.392G>A (p.Ser131Asn)
NM_000278.5(PAX2):c.410+14C>G rs1845416446
NM_000278.5(PAX2):c.410+15C>T
NM_000278.5(PAX2):c.410+19T>C rs2133836724
NM_000278.5(PAX2):c.410+3G>A
NM_000278.5(PAX2):c.411-11C>A
NM_000278.5(PAX2):c.411-14_411-10dup rs1227571557
NM_000278.5(PAX2):c.418C>T (p.Arg140Trp) rs1217241110
NM_000278.5(PAX2):c.43+10G>A
NM_000278.5(PAX2):c.43+10G>C rs4472867
NM_000278.5(PAX2):c.43+12C>A
NM_000278.5(PAX2):c.43+12C>G
NM_000278.5(PAX2):c.43+1G>A
NM_000278.5(PAX2):c.43+20T>C
NM_000278.5(PAX2):c.43+3G>A
NM_000278.5(PAX2):c.430C>T (p.Gln144Ter) rs2133894054
NM_000278.5(PAX2):c.432G>T (p.Gln144His)
NM_000278.5(PAX2):c.44-12_44-8dup rs1845364215
NM_000278.5(PAX2):c.44-15del
NM_000278.5(PAX2):c.44-2A>G
NM_000278.5(PAX2):c.44-8C>G
NM_000278.5(PAX2):c.449C>T (p.Thr150Met)
NM_000278.5(PAX2):c.451C>G (p.Pro151Ala)
NM_000278.5(PAX2):c.452C>T (p.Pro151Leu) rs199919058
NM_000278.5(PAX2):c.453G>A (p.Pro151=) rs199876625
NM_000278.5(PAX2):c.453G>C (p.Pro151=)
NM_000278.5(PAX2):c.460G>A (p.Ala154Thr) rs778742674
NM_000278.5(PAX2):c.461C>T (p.Ala154Val)
NM_000278.5(PAX2):c.477C>G (p.Thr159=) rs201775091
NM_000278.5(PAX2):c.481C>T (p.Pro161Ser)
NM_000278.5(PAX2):c.483del (p.Gly162fs) rs2133894273
NM_000278.5(PAX2):c.48G>A (p.Gly16=) rs2133833487
NM_000278.5(PAX2):c.490A>G (p.Thr164Ala) rs2133894286
NM_000278.5(PAX2):c.491C>G (p.Thr164Ser)
NM_000278.5(PAX2):c.496+13A>C
NM_000278.5(PAX2):c.496+15G>C
NM_000278.5(PAX2):c.496+7G>A
NM_000278.5(PAX2):c.496+8G>C
NM_000278.5(PAX2):c.497-9C>G
NM_000278.5(PAX2):c.497T>C (p.Val166Ala) rs764844605
NM_000278.5(PAX2):c.501C>T (p.Pro167=)
NM_000278.5(PAX2):c.507G>A (p.Thr169=) rs149682559
NM_000278.5(PAX2):c.507G>T (p.Thr169=) rs149682559
NM_000278.5(PAX2):c.510C>T (p.Ala170=)
NM_000278.5(PAX2):c.517C>T (p.Pro173Ser)
NM_000278.5(PAX2):c.520G>A (p.Val174Ile)
NM_000278.5(PAX2):c.527G>C (p.Ser176Thr)
NM_000278.5(PAX2):c.533C>G (p.Ser178Cys) rs2133897760
NM_000278.5(PAX2):c.538G>A (p.Asp180Asn) rs1846612619
NM_000278.5(PAX2):c.54G>T (p.Gly18=)
NM_000278.5(PAX2):c.550T>A (p.Ser184Thr)
NM_000278.5(PAX2):c.551C>A (p.Ser184Tyr)
NM_000278.5(PAX2):c.562A>G (p.Asn188Asp)
NM_000278.5(PAX2):c.583C>T (p.Arg195Cys)
NM_000278.5(PAX2):c.585C>A (p.Arg195=)
NM_000278.5(PAX2):c.587C>T (p.Ser196Phe)
NM_000278.5(PAX2):c.595G>C (p.Glu199Gln) rs1262508509
NM_000278.5(PAX2):c.607C>T (p.Arg203Cys)
NM_000278.5(PAX2):c.608G>A (p.Arg203His)
NM_000278.5(PAX2):c.608G>C (p.Arg203Pro) rs201089410
NM_000278.5(PAX2):c.616+14A>C rs749404379
NM_000278.5(PAX2):c.616+14A>G rs749404379
NM_000278.5(PAX2):c.638C>G (p.Pro213Arg)
NM_000278.5(PAX2):c.648T>G (p.Asp216Glu) rs1564737100
NM_000278.5(PAX2):c.656G>A (p.Ser219Asn) rs200491094
NM_000278.5(PAX2):c.656G>C (p.Ser219Thr)
NM_000278.5(PAX2):c.659G>A (p.Gly220Asp)
NM_000278.5(PAX2):c.665A>G (p.Asp222Gly)
NM_000278.5(PAX2):c.673C>T (p.Arg225Trp)
NM_000278.5(PAX2):c.674G>A (p.Arg225Gln)
NM_000278.5(PAX2):c.680A>G (p.His227Arg)
NM_000278.5(PAX2):c.685C>A (p.Arg229=)
NM_000278.5(PAX2):c.685C>T (p.Arg229Ter) rs76492282
NM_000278.5(PAX2):c.686G>A (p.Arg229Gln)
NM_000278.5(PAX2):c.699C>T (p.Phe233=) rs2133950417
NM_000278.5(PAX2):c.69C>T (p.Leu23=)
NM_000278.5(PAX2):c.706C>A (p.Gln236Lys) rs75399846
NM_000278.5(PAX2):c.70G>A (p.Gly24Arg) rs1845366198
NM_000278.5(PAX2):c.70G>C (p.Gly24Arg) rs1845366198
NM_000278.5(PAX2):c.717A>C (p.Glu239Asp)
NM_000278.5(PAX2):c.71G>C (p.Gly24Ala) rs201239919
NM_000278.5(PAX2):c.71G>T (p.Gly24Val)
NM_000278.5(PAX2):c.728G>A (p.Arg243Gln) rs147636578
NM_000278.5(PAX2):c.728G>C (p.Arg243Pro)
NM_000278.5(PAX2):c.72G>A (p.Gly24=) rs2133833617
NM_000278.5(PAX2):c.732C>T (p.Val244=)
NM_000278.5(PAX2):c.750C>A (p.Tyr250Ter)
NM_000278.5(PAX2):c.751C>T (p.Pro251Ser)
NM_000278.5(PAX2):c.752del (p.Pro251fs)
NM_000278.5(PAX2):c.75G>T (p.Gly25=) rs371041678
NM_000278.5(PAX2):c.76G>A (p.Val26Met)
NM_000278.5(PAX2):c.76G>C (p.Val26Leu) rs1022509510
NM_000278.5(PAX2):c.76G>T (p.Val26Leu) rs1022509510
NM_000278.5(PAX2):c.76del (p.Val26fs) rs75462234
NM_000278.5(PAX2):c.76dup (p.Val26fs) rs75462234
NM_000278.5(PAX2):c.785C>A (p.Ser262Ter) rs2133950621
NM_000278.5(PAX2):c.792+16T>C
NM_000278.5(PAX2):c.792+2T>C
NM_000278.5(PAX2):c.792+5G>T
NM_000278.5(PAX2):c.793-14del
NM_000278.5(PAX2):c.793-15TC[3]
NM_000278.5(PAX2):c.793G>C (p.Gly265Arg) rs1847901504
NM_000278.5(PAX2):c.794G>A (p.Gly265Glu) rs1847901674
NM_000278.5(PAX2):c.797_798inv (p.Asn266Ser)
NM_000278.5(PAX2):c.799G>T (p.Glu267Ter)
NM_000278.5(PAX2):c.7A>G (p.Met3Val)
NM_000278.5(PAX2):c.812C>G (p.Pro271Arg)
NM_000278.5(PAX2):c.814G>A (p.Ala272Thr) rs762149868
NM_000278.5(PAX2):c.846G>A (p.Ser282=)
NM_000278.5(PAX2):c.858A>G (p.Ala286=)
NM_000278.5(PAX2):c.865A>G (p.Asn289Asp)
NM_000278.5(PAX2):c.868C>T (p.Pro290Ser)
NM_000278.5(PAX2):c.873G>T (p.Glu291Asp)
NM_000278.5(PAX2):c.879C>A (p.Gly293=)
NM_000278.5(PAX2):c.886G>A (p.Val296Met)
NM_000278.5(PAX2):c.888G>T (p.Val296=)
NM_000278.5(PAX2):c.8T>A (p.Met3Lys) rs754968736
NM_000278.5(PAX2):c.8T>C (p.Met3Thr)
NM_000278.5(PAX2):c.906C>A (p.Tyr302Ter) rs2133956435
NM_000278.5(PAX2):c.915G>C (p.Val305=)
NM_000278.5(PAX2):c.917C>T (p.Thr306Ile)
NM_000278.5(PAX2):c.919+10C>A
NM_000278.5(PAX2):c.919+20G>T
NM_000278.5(PAX2):c.919+5G>C
NM_000278.5(PAX2):c.920-4C>T
NM_000278.5(PAX2):c.922C>T (p.Arg308Cys)
NM_000278.5(PAX2):c.923G>A (p.Arg308His)
NM_000278.5(PAX2):c.92G>A (p.Arg31Gln)
NM_000278.5(PAX2):c.933G>A (p.Ala311=)
NM_000278.5(PAX2):c.957C>G (p.Pro319=)
NM_000278.5(PAX2):c.959C>G (p.Pro320Arg)
NM_000278.5(PAX2):c.967C>T (p.Pro323Ser)
NM_000278.5(PAX2):c.975T>A (p.Thr325=)
NM_000278.5(PAX2):c.97del (p.Leu33fs)
NM_000278.5(PAX2):c.993C>T (p.Pro331=)
NM_000278.5(PAX2):c.997T>C (p.Ser333Pro)

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