ClinVar Miner

List of variants reported as uncertain significance for Epidermolysis bullosa simplex with nail dystrophy by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_201384.3(PLEC):c.10850G>A (p.Arg3617His)	rs782758161	0.00003
NM_201384.3(PLEC):c.6065G>A (p.Arg2022Gln)	rs782332277	0.00001
NM_201384.3(PLEC):c.7838_7839del (p.Glu2613fs)	rs2537536525

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