ClinVar Miner

List of variants reported as not provided for epidermolysis bullosa simplex 5C, with pyloric atresia by GenomeConnect - Invitae Patient Insights Network

Included ClinVar conditions (5):

Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex 5B, with muscular dystrophy; 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
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
Epidermolysis bullosa simplex 5C, with pyloric atresia

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_201384.3(PLEC):c.3682C>T (p.Arg1228Trp)	rs144610086	0.00403
NM_201384.3(PLEC):c.12647G>A (p.Arg4216His)	rs151106439	0.00011
NM_201384.3(PLEC):c.3460C>T (p.Arg1154Trp)	rs782544250	0.00010
NM_201384.3(PLEC):c.9014G>A (p.Arg3005His)	rs369581930	0.00005
NM_201384.3(PLEC):c.1970G>A (p.Ser657Asn)	rs782591543	0.00002
NM_201384.3(PLEC):c.12022G>A (p.Glu4008Lys)	rs541833704	0.00001
NM_201384.3(PLEC):c.10339C>T (p.Leu3447Phe)
NM_201384.3(PLEC):c.5932GAG[2] (p.Glu1980del)	rs781811075

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