ClinVar Miner

List of variants studied for Focal segmental glomerulosclerosis 7

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001304569.2(PAX2):c.25+31A>G rs4919486 0.79471
NM_000278.5(PAX2):c.909A>C (p.Pro303=) rs1800898 0.40586
NM_000278.5(PAX2):c.43+43C>A rs4405241 0.37380
NM_000278.5(PAX2):c.563A>G (p.Asn188Ser) rs767995614 0.00005
NM_000278.5(PAX2):c.1049G>C (p.Ser350Thr) rs1589910427
NM_000278.5(PAX2):c.148C>T (p.Arg50Trp) rs759356936
NM_000278.5(PAX2):c.167G>A (p.Arg56Gln) rs587777708
NM_000278.5(PAX2):c.175C>T (p.Arg59Trp) rs2133833948
NM_000278.5(PAX2):c.1A>G (p.Met1Val) rs767150408
NM_000278.5(PAX2):c.212G>T (p.Arg71Met)
NM_000278.5(PAX2):c.226G>C (p.Gly76Arg) rs79555199
NM_000278.5(PAX2):c.239C>A (p.Pro80Gln) rs1554856032
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.358dup (p.Ala120fs)
NM_000278.5(PAX2):c.43+10G>C rs4472867
NM_000278.5(PAX2):c.43+5G>A rs878853000
NM_000278.5(PAX2):c.565G>A (p.Gly189Arg) rs1131692055
NM_000278.5(PAX2):c.574G>C (p.Gly192Arg) rs1589848170
NM_000278.5(PAX2):c.685C>T (p.Arg229Ter) rs76492282
NM_000278.5(PAX2):c.76dup (p.Val26fs) rs75462234
NM_000278.5(PAX2):c.791del (p.Gln264fs) rs2133950639
NM_000278.5(PAX2):c.832G>T (p.Asp278Tyr)
NM_000278.5(PAX2):c.869del (p.Pro290fs) rs2133956351

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