ClinVar Miner

List of variants reported as uncertain significance for Nephrotic syndrome, type 3 by Fulgent Genetics, Fulgent Genetics

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_016341.4(PLCE1):c.5782G>A (p.Val1928Ile) rs202171627 0.00101
NM_016341.4(PLCE1):c.1201T>C (p.Tyr401His) rs201401363 0.00035
NM_016341.4(PLCE1):c.3335A>G (p.His1112Arg) rs775231257 0.00010
NM_016341.4(PLCE1):c.1090A>G (p.Ile364Val) rs372621219 0.00006
NM_016341.4(PLCE1):c.3518C>T (p.Ser1173Phe) rs180753337 0.00006
NM_016341.4(PLCE1):c.6446C>T (p.Pro2149Leu) rs192586920 0.00006
NM_016341.4(PLCE1):c.634G>A (p.Asp212Asn) rs776583769 0.00005
NM_016341.4(PLCE1):c.1180C>T (p.Arg394Cys) rs761213168 0.00004
NM_016341.4(PLCE1):c.5840C>T (p.Ala1947Val) rs763348713 0.00004
NM_016341.4(PLCE1):c.1698T>A (p.Pro566=) rs377307234 0.00003
NM_016341.4(PLCE1):c.5607A>G (p.Ala1869=) rs536348835 0.00003
NM_016341.4(PLCE1):c.5612A>G (p.Tyr1871Cys) rs762506926 0.00003
NM_016341.4(PLCE1):c.2342T>C (p.Leu781Pro) rs201965980 0.00002
NM_016341.4(PLCE1):c.3215A>G (p.Asn1072Ser) rs764019766 0.00002
NM_016341.4(PLCE1):c.1642C>T (p.Arg548Cys) rs369152754 0.00001
NM_016341.4(PLCE1):c.3491C>T (p.Thr1164Met) rs540730568 0.00001
NM_016341.4(PLCE1):c.3876G>A (p.Ser1292=) rs886047501 0.00001
NM_016341.4(PLCE1):c.4447A>G (p.Ile1483Val) rs886047503 0.00001
NM_016341.4(PLCE1):c.1081T>C (p.Trp361Arg) rs564879389
NM_016341.4(PLCE1):c.3281G>C (p.Gly1094Ala) rs61732523
NM_016341.4(PLCE1):c.4724G>A (p.Arg1575Gln) rs2274224
NM_016341.4(PLCE1):c.4733A>T (p.Asn1578Ile) rs61732525
NM_016341.4(PLCE1):c.6757G>A (p.Ala2253Thr) rs180876175
NM_016341.4(PLCE1):c.6853GAG[1] (p.Glu2286del) rs771798085
NM_016341.4(PLCE1):c.748C>A (p.Gln250Lys) rs1193922904

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