List of variants reported as likely benign 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 Fulgent Genetics, Fulgent Genetics

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_201384.3(PLEC):c.8012G>A (p.Arg2671Gln)	rs28526657	0.01433
NM_201384.3(PLEC):c.4557G>A (p.Ser1519=)	rs79705634	0.01389
NM_201384.3(PLEC):c.6577C>T (p.Leu2193=)	rs28610521	0.01376
NM_201384.3(PLEC):c.5477G>A (p.Arg1826Gln)	rs147838690	0.01083
NM_201384.3(PLEC):c.12360G>A (p.Pro4120=)	rs146781600	0.00943
NM_201384.3(PLEC):c.8489A>G (p.Tyr2830Cys)	rs199720608	0.00920
NM_201384.3(PLEC):c.13110C>T (p.Ala4370=)	rs187810163	0.00617
NM_201384.3(PLEC):c.2961C>T (p.Ser987=)	rs149932255	0.00603
NM_201384.3(PLEC):c.4044+16C>T	rs182039608	0.00379
NM_201384.3(PLEC):c.8445T>C (p.Val2815=)	rs371421350	0.00329
NM_201384.3(PLEC):c.58A>G (p.Ser20Gly)	rs183111586	0.00270
NM_201384.3(PLEC):c.6069C>G (p.Arg2023=)	rs376365984	0.00218
NM_201384.3(PLEC):c.9351C>T (p.Phe3117=)	rs200895343	0.00153
NM_201378.4(PLEC):c.71-11512C>T	rs201053471	0.00108
NM_201384.3(PLEC):c.6311C>T (p.Ala2104Val)	rs201959200	0.00081
NM_201384.3(PLEC):c.801C>T (p.Asp267=)	rs202218097	0.00017

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