ClinVar Miner

List of variants reported for Familial steroid-resistant nephrotic syndrome with sensorineural deafness by Fulgent Genetics, Fulgent Genetics

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_182476.3(COQ6):c.1184C>T (p.Thr395Met) rs34746680 0.00726
NM_182476.3(COQ6):c.1319C>A (p.Pro440Gln) rs148444170 0.00057
NM_182476.3(COQ6):c.1337C>T (p.Thr446Met) rs146458320 0.00046
NM_182476.3(COQ6):c.986G>A (p.Arg329His) rs147273831 0.00029
NM_182476.3(COQ6):c.498C>T (p.Leu166=) rs139341447 0.00021
NM_182476.3(COQ6):c.436G>T (p.Asp146Tyr) rs140725181 0.00014
NM_182476.3(COQ6):c.917T>C (p.Phe306Ser) rs767940412 0.00014
NM_182476.3(COQ6):c.1118C>T (p.Pro373Leu) rs199869505 0.00007
NM_182476.3(COQ6):c.349C>T (p.Arg117Ter) rs376848848 0.00004
NM_182476.3(COQ6):c.180T>C (p.Phe60=) rs773886692 0.00003
NM_182476.3(COQ6):c.1078C>T (p.Arg360Trp) rs778856227 0.00001
NM_182476.3(COQ6):c.564G>A (p.Trp188Ter) rs1057519349 0.00001
NM_182476.3(COQ6):c.164-12dup rs745746077
NM_182476.3(COQ6):c.427G>T (p.Val143Leu) rs144520464
NM_182476.3(COQ6):c.554C>G (p.Ser185Cys) rs1170799064
NM_182476.3(COQ6):c.855T>G (p.Asp285Glu) rs2056604424
NM_182476.3(COQ6):c.877G>A (p.Val293Ile) rs201706177

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