ClinVar Miner

List of variants reported as uncertain significance for Steroid-resistant nephrotic syndrome by Natera, Inc.

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_014625.4(NPHS2):c.124G>A (p.Gly42Arg) rs559836164 0.00365
NM_014625.4(NPHS2):c.873+10C>T rs536934083 0.00019
NM_014625.4(NPHS2):c.671G>A (p.Arg224His) rs138545216 0.00010
NM_014625.4(NPHS2):c.885A>G (p.Ala295=) rs146940071 0.00006
NM_014625.4(NPHS2):c.874-11_874-10del rs774075788 0.00005
NM_014625.4(NPHS2):c.1113G>A (p.Glu371=) rs751795698 0.00004
NM_014625.4(NPHS2):c.622G>A (p.Ala208Thr) rs200587413 0.00002
NM_014625.4(NPHS2):c.1097C>T (p.Pro366Leu) rs774347501 0.00001
NM_014625.4(NPHS2):c.120G>A (p.Glu40=) rs1183621605 0.00001
NM_014625.4(NPHS2):c.615C>T (p.Ser205=) rs778514784 0.00001
NM_014625.4(NPHS2):c.745T>C (p.Leu249=) rs1171758025 0.00001
NM_014625.4(NPHS2):c.1064A>G (p.Asn355Ser) rs1040479346
NM_014625.4(NPHS2):c.452-17CTC[2] rs755282277
NM_014625.4(NPHS2):c.548A>G (p.Asp183Gly) rs1673967924
NM_014625.4(NPHS2):c.794+10A>C rs1673783008

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