ClinVar Miner

List of variants in gene PLEC reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 7
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HGVS dbSNP
NM_000445.5(PLEC):c.11366_11367TC[1] (p.Ser3790fs) rs886044796
NM_000445.5(PLEC):c.2409_2410insGT (p.Tyr804fs) rs1554714095
NM_000445.5(PLEC):c.4336C>T (p.Gln1446Ter) rs886044836
NM_000445.5(PLEC):c.4756C>T (p.Arg1586Ter) rs782185897
NM_000445.5(PLEC):c.7261C>T (p.Arg2421Ter) rs886044894
NM_000445.5(PLEC):c.9081_9082delinsTT (p.Gln3028Ter) rs1554683108
NM_000445.5(PLEC):c.9639_9640del (p.Glu3215fs) rs1554681167

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