ClinVar Miner

List of variants reported for Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 by Fulgent Genetics, Fulgent Genetics

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Total variants: 39
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HGVS dbSNP gnomAD frequency
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.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.496+9G>T rs577483360 0.00016
NM_000278.5(PAX2):c.411-11C>T rs541291517 0.00012
NM_000278.5(PAX2):c.529G>A (p.Ala177Thr) rs749684940 0.00007
NM_000278.5(PAX2):c.528C>T (p.Ser176=) rs369240774 0.00006
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.954C>T (p.Tyr318=) rs78122364 0.00003
NM_000278.5(PAX2):c.1021+137C>T rs1848496928 0.00001
NM_000278.5(PAX2):c.320C>T (p.Pro107Leu) rs774231216 0.00001
NM_000278.5(PAX2):c.450G>A (p.Thr150=) rs1386529275 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.616+5648T>C rs747453876 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.845C>T (p.Ser282Leu) rs757989097 0.00001
GRCh37/hg19 10q24.31(chr10:102568846-102589718)
NM_000278.5(PAX2):c.221_226dup (p.Glu74_Thr75dup) rs387906530
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.250G>A (p.Gly84Ser) rs2133836340
NM_000278.5(PAX2):c.343C>T (p.Arg115Ter) rs1845412705
NM_000278.5(PAX2):c.418C>T (p.Arg140Trp) rs1217241110
NM_000278.5(PAX2):c.483del (p.Gly162fs) rs2133894273
NM_000278.5(PAX2):c.685C>T (p.Arg229Ter) rs76492282
NM_000278.5(PAX2):c.76del (p.Val26fs) rs75462234
NM_000278.5(PAX2):c.76dup (p.Val26fs) rs75462234
NM_000278.5(PAX2):c.791del (p.Gln264fs) rs2133950639

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