ClinVar Miner

List of variants in gene PAX2 reported as uncertain significance for inherited focal segmental glomerulosclerosis

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 144
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HGVS dbSNP gnomAD frequency
NM_000278.5(PAX2):c.491C>A (p.Thr164Asn) rs370214925 0.00026
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.529G>A (p.Ala177Thr) rs749684940 0.00007
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.584G>A (p.Arg195His) rs201880460 0.00004
NM_000278.5(PAX2):c.641A>G (p.Asn214Ser) rs148402788 0.00004
NM_000278.5(PAX2):c.220G>A (p.Glu74Lys) rs754146050 0.00003
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+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.320C>T (p.Pro107Leu) rs774231216 0.00001
NM_000278.5(PAX2):c.452C>A (p.Pro151Gln) rs199919058 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+4G>A rs1490836600 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.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.907C>G (p.Pro303Ala) rs761764477 0.00001
NM_000278.5(PAX2):c.964G>A (p.Val322Met) rs777775098 0.00001
NM_000278.5(PAX2):c.1001C>A (p.Thr334Asn)
NM_000278.5(PAX2):c.1021+143C>G
NM_000278.5(PAX2):c.1021+167C>T
NM_000278.5(PAX2):c.1021+192C>G
NM_000278.5(PAX2):c.1021+192C>T
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.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.103G>C (p.Asp35His)
NM_000278.5(PAX2):c.1041C>T (p.Asn347=)
NM_000278.5(PAX2):c.1049G>C (p.Ser350Thr) rs1589910427
NM_000278.5(PAX2):c.1070A>G (p.Tyr357Cys) rs2133989654
NM_000278.5(PAX2):c.1087T>G (p.Phe363Val)
NM_000278.5(PAX2):c.148C>T (p.Arg50Trp) rs759356936
NM_000278.5(PAX2):c.154T>C (p.Cys52Arg)
NM_000278.5(PAX2):c.157G>A (p.Asp53Asn)
NM_000278.5(PAX2):c.165C>T (p.Ser55=) rs1845370334
NM_000278.5(PAX2):c.167G>A (p.Arg56Gln) rs587777708
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.1A>G (p.Met1Val) rs767150408
NM_000278.5(PAX2):c.212+5G>A
NM_000278.5(PAX2):c.221_223del (p.Glu74_Thr75delinsAla)
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.263C>A (p.Pro88His) rs1845410479
NM_000278.5(PAX2):c.263C>T (p.Pro88Leu) rs1845410479
NM_000278.5(PAX2):c.272C>T (p.Ala91Val) rs1589813617
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.337G>A (p.Glu113Lys) rs1481932003
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.367A>G (p.Ile123Val)
NM_000278.5(PAX2):c.374A>T (p.Asp125Val) rs2133836581
NM_000278.5(PAX2):c.393C>G (p.Ser131Arg)
NM_000278.5(PAX2):c.410+3G>A
NM_000278.5(PAX2):c.411-14_411-10dup rs1227571557
NM_000278.5(PAX2):c.43+3G>A
NM_000278.5(PAX2):c.432G>T (p.Gln144His)
NM_000278.5(PAX2):c.44-12_44-8dup rs1845364215
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.460G>A (p.Ala154Thr) rs778742674
NM_000278.5(PAX2):c.461C>T (p.Ala154Val)
NM_000278.5(PAX2):c.490A>G (p.Thr164Ala) rs2133894286
NM_000278.5(PAX2):c.491C>G (p.Thr164Ser)
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.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.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.574G>C (p.Gly192Arg) rs1589848170
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.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.680A>G (p.His227Arg)
NM_000278.5(PAX2):c.686G>A (p.Arg229Gln)
NM_000278.5(PAX2):c.706C>A (p.Gln236Lys) rs75399846
NM_000278.5(PAX2):c.70G>C (p.Gly24Arg) rs1845366198
NM_000278.5(PAX2):c.71G>C (p.Gly24Ala) rs201239919
NM_000278.5(PAX2):c.728G>C (p.Arg243Pro)
NM_000278.5(PAX2):c.751C>T (p.Pro251Ser)
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.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.812C>G (p.Pro271Arg)
NM_000278.5(PAX2):c.814G>A (p.Ala272Thr) rs762149868
NM_000278.5(PAX2):c.832G>T (p.Asp278Tyr)
NM_000278.5(PAX2):c.886G>A (p.Val296Met)
NM_000278.5(PAX2):c.8T>A (p.Met3Lys) rs754968736
NM_000278.5(PAX2):c.8T>C (p.Met3Thr)
NM_000278.5(PAX2):c.917C>T (p.Thr306Ile)
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.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=)

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