ClinVar Miner

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

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Total variants: 12
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HGVS dbSNP
NM_016341.4(PLCE1):c.1146del (p.Ser383fs) rs876657369
NM_016341.4(PLCE1):c.1477C>T (p.Arg493Ter) rs121912601
NM_016341.4(PLCE1):c.3058C>T (p.Gln1020Ter)
NM_016341.4(PLCE1):c.3065G>A (p.Trp1022Ter)
NM_016341.4(PLCE1):c.3346C>T (p.Arg1116Ter) rs121912602
NM_016341.4(PLCE1):c.3736C>T (p.Arg1246Ter) rs267606955
NM_016341.4(PLCE1):c.3846del (p.Leu1283fs) rs876657370
NM_016341.4(PLCE1):c.4451C>T (p.Ser1484Leu) rs121912605
NM_016341.4(PLCE1):c.4846C>T (p.Gln1616Ter) rs121912603
NM_016341.4(PLCE1):c.5560C>T (p.Gln1854Ter) rs121912604
NM_016341.4(PLCE1):c.6448C>T (p.Arg2150Ter) rs267606953
NM_016341.4(PLCE1):c.961C>T (p.Arg321Ter) rs267606954

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