List of variants reported as uncertain significance for Epidermolysis bullosa simplex 5B, with muscular dystrophy; Junctional epidermolysis bullosa with pyloric atresia; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 38

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HGVS	dbSNP	gnomAD frequency
NM_201384.3(PLEC):c.3731T>G (p.Val1244Gly)	rs187648086	0.00089
NM_201384.3(PLEC):c.5024G>A (p.Arg1675Gln)	rs370569372	0.00064
NM_201384.3(PLEC):c.13111G>A (p.Ala4371Thr)	rs200361523	0.00042
NM_201384.3(PLEC):c.10744G>A (p.Gly3582Ser)	rs202010719	0.00031
NM_201384.3(PLEC):c.11036C>T (p.Ala3679Val)	rs200060757	0.00028
NM_201384.3(PLEC):c.1760G>A (p.Arg587Gln)	rs200259757	0.00027
NM_201384.3(PLEC):c.10603G>A (p.Glu3535Lys)	rs200034893	0.00021
NM_201384.3(PLEC):c.11351A>T (p.Gln3784Leu)	rs372123082	0.00019
NM_201384.3(PLEC):c.3142G>A (p.Glu1048Lys)	rs199523622	0.00017
NM_201384.3(PLEC):c.4652G>A (p.Arg1551His)	rs374991369	0.00017
NM_201384.3(PLEC):c.7703G>A (p.Arg2568His)	rs552039931	0.00016
NM_201384.3(PLEC):c.3368C>T (p.Pro1123Leu)	rs376494828	0.00012
NM_201384.3(PLEC):c.8912G>A (p.Arg2971Gln)	rs552713184	0.00011
NM_201384.3(PLEC):c.8576A>G (p.His2859Arg)	rs368319348	0.00010
NM_201384.3(PLEC):c.5003A>C (p.Glu1668Ala)	rs782670264	0.00009
NM_201384.3(PLEC):c.6038G>A (p.Arg2013Gln)	rs369708974	0.00006
NM_201384.3(PLEC):c.8630C>T (p.Thr2877Met)	rs201565643	0.00005
NM_201384.3(PLEC):c.11605G>A (p.Gly3869Ser)	rs782123116	0.00003
NM_201384.3(PLEC):c.2941C>T (p.Arg981Cys)	rs374604569	0.00002
NM_201378.4(PLEC):c.71-11602G>A	rs374484619	0.00001
NM_201384.3(PLEC):c.11734C>T (p.Arg3912Trp)	rs782136681	0.00001
NM_201384.3(PLEC):c.2105C>T (p.Thr702Met)	rs782793434	0.00001
NM_201384.3(PLEC):c.2950C>T (p.Arg984Cys)	rs201454700	0.00001
NM_201384.3(PLEC):c.3136G>A (p.Glu1046Lys)	rs781823745	0.00001
NM_201384.3(PLEC):c.6317A>G (p.Gln2106Arg)	rs781986464	0.00001
NM_201384.3(PLEC):c.6947T>C (p.Met2316Thr)	rs782572408	0.00001
NM_201384.3(PLEC):c.838C>T (p.Arg280Cys)	rs372997489	0.00001
NM_201384.3(PLEC):c.9241G>A (p.Ala3081Thr)	rs782803695	0.00001
NM_201378.4(PLEC):c.71-11519C>T
NM_201378.4(PLEC):c.71-11710G>T	rs200335928
NM_201378.4(PLEC):c.71-5110G>T
NM_201384.3(PLEC):c.10610G>T (p.Gly3537Val)
NM_201384.3(PLEC):c.11573C>T (p.Thr3858Met)	rs373863249
NM_201384.3(PLEC):c.12611A>G (p.Asp4204Gly)
NM_201384.3(PLEC):c.12866T>C (p.Leu4289Pro)
NM_201384.3(PLEC):c.571C>T (p.Arg191Cys)
NM_201384.3(PLEC):c.6238C>T (p.Arg2080Cys)
NM_201384.3(PLEC):c.6494C>T (p.Ala2165Val)

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