ClinVar Miner

List of variants in gene PLEC reported as likely pathogenic

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_201384.3(PLEC):c.7309C>T (p.Gln2437Ter) rs782499772 0.00006
NM_201384.3(PLEC):c.6910C>T (p.Gln2304Ter) rs782107643 0.00001
NM_201384.3(PLEC):c.8991C>G (p.Tyr2997Ter) rs1279778532 0.00001
NC_000008.10:g.(?_145008466)_(145012880_?)dup
NM_201378.4(PLEC):c.1_9del (p.Met1_Gly3del) rs864309673
NM_201378.4(PLEC):c.66C>G (p.Tyr22Ter) rs2132991341
NM_201378.4(PLEC):c.70+2T>C rs2132991287
NM_201378.4(PLEC):c.71-11672dup
NM_201384.3(PLEC):c.1060C>T (p.Gln354Ter) rs1060499581
NM_201384.3(PLEC):c.11350C>T (p.Gln3784Ter) rs1554675388
NM_201384.3(PLEC):c.11574_11575del (p.Gln3859fs) rs1554674544
NM_201384.3(PLEC):c.11893G>T (p.Glu3965Ter) rs2130880784
NM_201384.3(PLEC):c.1210G>T (p.Glu404Ter)
NM_201384.3(PLEC):c.1264-1G>A
NM_201384.3(PLEC):c.1738-2A>C
NM_201384.3(PLEC):c.1973_1977+2del
NM_201384.3(PLEC):c.2178+2T>G
NM_201384.3(PLEC):c.2188_2189del (p.Asp730fs) rs1554715600
NM_201384.3(PLEC):c.2326G>T (p.Glu776Ter) rs781907409
NM_201384.3(PLEC):c.2457+1G>A
NM_201384.3(PLEC):c.2587CAGGAGGCC[1] (p.863QEA[1]) rs786205252
NM_201384.3(PLEC):c.2983C>T (p.Gln995Ter) rs1554711139
NM_201384.3(PLEC):c.3041_3042del (p.Glu1014fs)
NM_201384.3(PLEC):c.3261-1G>A rs111730406
NM_201384.3(PLEC):c.4141C>T (p.Gln1381Ter)
NM_201384.3(PLEC):c.4255C>T (p.Gln1419Ter) rs886044836
NM_201384.3(PLEC):c.4468C>T (p.Arg1490Ter) rs1554702689
NM_201384.3(PLEC):c.5053del (p.Arg1685fs) rs1057519155
NM_201384.3(PLEC):c.5055del (p.Gln1686fs) rs1064797350
NM_201384.3(PLEC):c.602+1G>A rs2132118237
NM_201384.3(PLEC):c.6217C>T (p.Gln2073Ter)
NM_201384.3(PLEC):c.6240_6244del (p.Glu2082fs)
NM_201384.3(PLEC):c.6328C>T (p.Gln2110Ter) rs1823729558
NM_201384.3(PLEC):c.6388C>T (p.Gln2130Ter) rs781823434
NM_201384.3(PLEC):c.647_656del (p.Leu216fs) rs2132086965
NM_201384.3(PLEC):c.7318C>T (p.Gln2440Ter) rs2131266696
NM_201384.3(PLEC):c.7387C>T (p.Gln2463Ter) rs1554689806
NM_201384.3(PLEC):c.7813del (p.His2605fs) rs2131216563
NM_201384.3(PLEC):c.8149C>T (p.Gln2717Ter) rs1554686620
NM_201384.3(PLEC):c.826-1G>A
NM_201384.3(PLEC):c.8995C>T (p.Gln2999Ter)
NM_201384.3(PLEC):c.9000_9001delinsTT (p.Gln3001Ter) rs1554683108
NM_201384.3(PLEC):c.9920del (p.Gly3307fs)
NM_201384.3(PLEC):c.9960del (p.Val3322fs)

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