ClinVar Miner

List of variants in gene PAX2 reported as likely benign for inherited focal segmental glomerulosclerosis

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
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.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.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.411-10G>A rs753261521 0.00005
NM_000278.5(PAX2):c.756C>T (p.Asp252=) rs200804078 0.00005
NM_000278.5(PAX2):c.1058A>C (p.Gln353Pro) rs201021899 0.00003
NM_000278.5(PAX2):c.418C>A (p.Arg140=) rs1217241110 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.1021+137C>T rs1848496928 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.450G>A (p.Thr150=) rs1386529275 0.00001
NM_000278.5(PAX2):c.477C>T (p.Thr159=) rs201775091 0.00001
NM_000278.5(PAX2):c.616+20T>C rs779199563 0.00001
NM_000278.5(PAX2):c.735T>C (p.Phe245=) rs746316295 0.00001
NM_000278.5(PAX2):c.792+19G>A rs765072775 0.00001
NM_000278.5(PAX2):c.885C>T (p.Asn295=) rs768564591 0.00001
NM_000278.5(PAX2):c.945G>C (p.Leu315=) rs1365331619 0.00001
NM_000278.5(PAX2):c.*52C>G
NM_000278.5(PAX2):c.1021+135G>C rs2133985034
NM_000278.5(PAX2):c.1021+196G>A
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.102C>T (p.Pro34=)
NM_000278.5(PAX2):c.123C>T (p.Ile41=) rs771654993
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.168G>A (p.Arg56=)
NM_000278.5(PAX2):c.174G>A (p.Leu58=) rs1386738065
NM_000278.5(PAX2):c.177G>A (p.Arg59=)
NM_000278.5(PAX2):c.204C>T (p.Ile68=)
NM_000278.5(PAX2):c.212+18G>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.213-4G>T rs750607196
NM_000278.5(PAX2):c.225C>T (p.Thr75=)
NM_000278.5(PAX2):c.234C>A (p.Ile78=)
NM_000278.5(PAX2):c.240G>A (p.Pro80=) rs576772135
NM_000278.5(PAX2):c.273G>A (p.Ala91=)
NM_000278.5(PAX2):c.273G>C (p.Ala91=)
NM_000278.5(PAX2):c.285G>A (p.Val95=) rs749059507
NM_000278.5(PAX2):c.310C>A (p.Arg104=)
NM_000278.5(PAX2):c.36G>C (p.Ala12=)
NM_000278.5(PAX2):c.410+14C>G rs1845416446
NM_000278.5(PAX2):c.410+19T>C rs2133836724
NM_000278.5(PAX2):c.43+10G>A
NM_000278.5(PAX2):c.43+12C>A
NM_000278.5(PAX2):c.43+12C>G
NM_000278.5(PAX2):c.43+20T>C
NM_000278.5(PAX2):c.44-8C>G
NM_000278.5(PAX2):c.453G>A (p.Pro151=) rs199876625
NM_000278.5(PAX2):c.477C>G (p.Thr159=) rs201775091
NM_000278.5(PAX2):c.48G>A (p.Gly16=) rs2133833487
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.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.54G>T (p.Gly18=)
NM_000278.5(PAX2):c.585C>A (p.Arg195=)
NM_000278.5(PAX2):c.616+14A>C rs749404379
NM_000278.5(PAX2):c.616+14A>G rs749404379
NM_000278.5(PAX2):c.685C>A (p.Arg229=)
NM_000278.5(PAX2):c.699C>T (p.Phe233=) rs2133950417
NM_000278.5(PAX2):c.69C>T (p.Leu23=)
NM_000278.5(PAX2):c.728G>A (p.Arg243Gln) rs147636578
NM_000278.5(PAX2):c.72G>A (p.Gly24=) rs2133833617
NM_000278.5(PAX2):c.732C>T (p.Val244=)
NM_000278.5(PAX2):c.75G>T (p.Gly25=) rs371041678
NM_000278.5(PAX2):c.792+16T>C
NM_000278.5(PAX2):c.858A>G (p.Ala286=)
NM_000278.5(PAX2):c.879C>A (p.Gly293=)
NM_000278.5(PAX2):c.888G>T (p.Val296=)
NM_000278.5(PAX2):c.915G>C (p.Val305=)
NM_000278.5(PAX2):c.919+20G>T
NM_000278.5(PAX2):c.933G>A (p.Ala311=)

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