List of variants reported as pathogenic for Nephrotic syndrome, type 9 by GeneReviews

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Total variants: 11

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HGVS	dbSNP
NM_001142555.3(COQ8B):c.831_833dup (p.Thr278dup)	rs1057519346
NM_024876.4(COQ8B):c.101G>A (p.Trp34Ter)	rs1057519345
NM_024876.4(COQ8B):c.1027C>T (p.Arg343Trp)	rs398122981
NM_024876.4(COQ8B):c.1199dup (p.His400fs)	rs398122982
NM_024876.4(COQ8B):c.1356_1362del (p.Gln452fs)	rs398122983
NM_024876.4(COQ8B):c.1430G>A (p.Arg477Gln)	rs1057519347
NM_024876.4(COQ8B):c.1447G>T (p.Glu483Ter)	rs398122980
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp)	rs398122978
NM_024876.4(COQ8B):c.645del (p.Phe215fs)	rs764587648
NM_024876.4(COQ8B):c.857A>G (p.Asp286Gly)	rs398122979
NM_024876.4(COQ8B):c.958C>T (p.Arg320Trp)	rs369573693

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