List of variants reported as pathogenic for Familial steroid-resistant nephrotic syndrome with sensorineural deafness

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_182476.3(COQ6):c.782C>T (p.Pro261Leu)	rs371260604	0.00011
NM_182476.3(COQ6):c.564G>A (p.Trp188Ter)	rs1057519349	0.00001
NM_182476.3(COQ6):c.1058C>A (p.Ala353Asp)	rs397514479
NM_182476.3(COQ6):c.1069del (p.Val357fs)	rs1555358729
NM_182476.3(COQ6):c.1237G>T (p.Glu413Ter)	rs1594816203
NM_182476.3(COQ6):c.1341G>A (p.Trp447Ter)	rs1057519351
NM_182476.3(COQ6):c.1383del (p.Ile462fs)	rs1057519352
NM_182476.3(COQ6):c.189_191del (p.Lys64del)	rs746839544
NM_182476.3(COQ6):c.484C>T (p.Arg162Ter)	rs189840848
NM_182476.3(COQ6):c.686A>C (p.Gln229Pro)	rs1446126959
NM_182476.3(COQ6):c.763G>A (p.Gly255Arg)	rs1057519350
NM_182476.3(COQ6):c.788_789del (p.Leu262_Ser263insTer)	rs2140404268

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