List of variants reported as pathogenic for Nephrotic syndrome by Sydney Genome Diagnostics, Children's Hospital Westmead

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)	rs74315342	0.00054
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)	rs140511594	0.00011
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter)	rs267606919	0.00010
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys)	rs386833909	0.00006
NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser)	rs138656762	0.00004
NM_004646.4(NPHS1):c.2131C>A (p.Arg711Ser)	rs764181464	0.00001
NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter)	rs386833920	0.00001
NM_014625.4(NPHS2):c.503G>A (p.Arg168His)	rs530318579	0.00001
NM_000091.5(COL4A3):c.2621del (p.Gly874fs)	rs759043857
NM_001127898.4(CLCN5):c.604-2A>G	rs1933652537
NM_001174147.2(LMX1B):c.737G>A (p.Arg246Gln)	rs1191455921
NM_002292.4(LAMB2):c.4519C>T (p.Gln1507Ter)	rs974891221
NM_004621.6(TRPC6):c.2683C>T (p.Arg895Cys)	rs121434394
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs)	rs386833935
NM_033380.3(COL4A5):c.2387G>A (p.Gly796Glu)	rs1569495819

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