ClinVar Miner

List of variants in gene PLEC reported as pathogenic by OMIM

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Total variants: 14
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NM_000445.4(PLEC):c.2680_2693del (p.Glu894Alafs) rs864309671
NM_000445.5(PLEC):c.12043dup (p.Glu4015fs) rs864309674
NM_000445.5(PLEC):c.1344G>A (p.Ser448=) rs864309672
NM_000445.5(PLEC):c.2668_2676CAGGAGGCC[1] (p.890_892QEA[1]) rs786205252
NM_000445.5(PLEC):c.5097_5104GGCGCGGC[1] (p.Arg1702fs) rs786205254
NM_000445.5(PLEC):c.5815del (p.Leu1939fs) rs786205253
NM_000445.5(PLEC):c.5856_5863dup (p.Leu1955fs) rs786205251
NM_000445.5(PLEC):c.5998C>T (p.Arg2000Trp) rs80338756
NM_000445.5(PLEC):c.6169C>T (p.Gln2057Ter) rs387906801
NM_000445.5(PLEC):c.6955C>T (p.Arg2319Ter) rs387906802
NM_000445.5(PLEC):c.9085C>T (p.Arg3029Ter) rs137853161
NM_000445.5(PLEC):c.913C>T (p.Gln305Ter) rs137853160
NM_201378.4(PLEC):c.1_9del (p.Met1_Gly3del) rs864309673
NM_201384.3(PLEC):c.46C>T (p.Arg16Ter) rs374419983

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