ClinVar Miner

List of variants reported as pathogenic for Nephrotic syndrome, type 3

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_016341.4(PLCE1):c.961C>T (p.Arg321Ter) rs267606954 0.00002
NM_016341.4(PLCE1):c.1477C>T (p.Arg493Ter) rs121912601 0.00001
NM_016341.4(PLCE1):c.3346C>T (p.Arg1116Ter) rs121912602 0.00001
GRCh38/hg38 10q23.33(chr10:94131004-94133482)x0
NM_016341.4(PLCE1):c.1146del (p.Ser383fs) rs876657369
NM_016341.4(PLCE1):c.1148C>A (p.Ser383Ter) rs2134504108
NM_016341.4(PLCE1):c.1350_1353del (p.Cys451fs)
NM_016341.4(PLCE1):c.3058C>T (p.Gln1020Ter) rs895782232
NM_016341.4(PLCE1):c.3065G>A (p.Trp1022Ter) rs1589413498
NM_016341.4(PLCE1):c.3610C>T (p.Gln1204Ter)
NM_016341.4(PLCE1):c.3736C>T (p.Arg1246Ter) rs267606955
NM_016341.4(PLCE1):c.3846del (p.Leu1283fs) rs876657370
NM_016341.4(PLCE1):c.4363dup (p.Thr1455fs) rs2133104138
NM_016341.4(PLCE1):c.4451C>T (p.Ser1484Leu) rs121912605
NM_016341.4(PLCE1):c.4477C>T (p.Gln1493Ter) rs2051691492
NM_016341.4(PLCE1):c.4846C>T (p.Gln1616Ter) rs121912603
NM_016341.4(PLCE1):c.5168-1G>A rs941409069
NM_016341.4(PLCE1):c.5363dup (p.Tyr1788Ter) rs2133537931
NM_016341.4(PLCE1):c.5560C>T (p.Gln1854Ter) rs121912604
NM_016341.4(PLCE1):c.6448C>T (p.Arg2150Ter) rs267606953

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