ClinVar Miner

List of variants in gene PLCE1 reported as benign for Nephrotic syndrome, type 3

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_016341.4(PLCE1):c.3398-28C>G rs10786156 0.46797
NM_016341.4(PLCE1):c.-558A>G rs2911857 0.41925
NM_016341.4(PLCE1):c.810T>C (p.Cys270=) rs17109671 0.40626
NM_016341.4(PLCE1):c.960G>A (p.Glu320=) rs17109674 0.32407
NM_016341.4(PLCE1):c.5330C>T (p.Thr1777Ile) rs3765524 0.31528
NM_016341.4(PLCE1):c.-135G>A rs10882386 0.31428
NM_016341.4(PLCE1):c.5780A>G (p.His1927Arg) rs2274223 0.31202
NM_016341.4(PLCE1):c.5035+12C>A rs3736901 0.28787
NM_016341.4(PLCE1):c.6003+24A>G rs11187850 0.26283
NM_016341.4(PLCE1):c.1643G>T (p.Arg548Leu) rs17417407 0.15541
NM_016341.4(PLCE1):c.5458+7G>A rs17516758 0.13792
NM_016341.4(PLCE1):c.4263G>A (p.Ser1421=) rs41291134 0.05210
NM_016341.4(PLCE1):c.-525T>C rs75639609 0.03061
NM_016341.4(PLCE1):c.1405T>A (p.Ser469Thr) rs17508082 0.02979
NM_016341.4(PLCE1):c.3132C>T (p.His1044=) rs61732522 0.02481
NM_016341.4(PLCE1):c.4059C>T (p.Phe1353=) rs61751499 0.00977
NM_016341.4(PLCE1):c.2124G>A (p.Val708=) rs61751496 0.00975
NM_016341.4(PLCE1):c.1729G>A (p.Ala577Thr) rs141639885 0.00444
NM_016341.4(PLCE1):c.-246A>G rs139061122 0.00403
NM_016341.4(PLCE1):c.227C>T (p.Ala76Val) rs61749238 0.00315
NM_016341.4(PLCE1):c.3279+12T>C rs139184808 0.00232
NM_016341.4(PLCE1):c.2352C>T (p.Asp784=) rs201793869 0.00044
NM_016341.4(PLCE1):c.664G>C (p.Gly222Arg) rs373215088 0.00001
NM_016341.4(PLCE1):c.4724G>C (p.Arg1575Pro) rs2274224
NM_016341.4(PLCE1):c.4733A>G (p.Asn1578Ser) rs61732525

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