List of variants reported as pathogenic by Biologia e Medicina Molecolare, Sapienza University of Rome

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_198129.4(LAMA3):c.7654C>T (p.Arg2552Ter)	rs1181742615	0.00001
NM_000053.3(ATP7B):c.[1924G>C];[3809A>G]
NM_000138.5(FBN1):c.6872-1G>T	rs1597518951
NM_005198.5(CHKB):c.1129C>T (p.Arg377Trp)	rs766848672
Single allele

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