ClinVar Miner

List of variants in gene PLEC studied for Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Epidermolysis bullosa junctionalis with pyloric atresia; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex with pyloric atresia; Limb-girdle muscular dystrophy, type 2Q; Epidermolysis bullosa simplex with nail dystrophy

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Total variants: 13
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HGVS dbSNP
NM_000445.4(PLEC):c.11147C>T (p.Thr3716Met) rs377252521
NM_000445.4(PLEC):c.13328C>T (p.Thr4443Met) rs201855218
NM_000445.4(PLEC):c.1519C>T (p.Arg507Cys) rs202172091
NM_000445.4(PLEC):c.2578C>T (p.Pro860Ser) rs782532633
NM_000445.4(PLEC):c.4454G>T (p.Arg1485Leu) rs782720526
NM_000445.4(PLEC):c.4580G>A (p.Arg1527Gln) rs782344020
NM_000445.4(PLEC):c.4607G>A (p.Arg1536His) rs782666455
NM_000445.4(PLEC):c.5329C>T (p.Arg1777Trp) rs782410213
NM_000445.4(PLEC):c.5396C>T (p.Ala1799Val) rs782439290
NM_000445.4(PLEC):c.6164C>T (p.Ala2055Val) rs781895825
NM_000445.4(PLEC):c.8711C>T (p.Thr2904Met) rs201565643
NM_000445.4(PLEC):c.8882C>T (p.Thr2961Met) rs368122904
NM_201378.3(PLEC):c.9364G>A (p.Ala3122Thr) rs200680102

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