List of variants reported as pathogenic by Research Unit for Rare Diseases, 1st Faculty of Medicine, Charles University in Prague

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000053.4(ATP7B):c.3766C>T (p.Gln1256Ter)	rs1957048901	0.00001
NM_001143981.2(CHRDL1):c.229C>T (p.Arg77Ter)	rs775515705	0.00001
NM_000053.4(ATP7B):c.2953del (p.Cys985fs)	rs1957660093
NM_000344.4(SMN1):c.82-2548_723+515del
NM_001143981.2(CHRDL1):c.1123C>T (p.Gln375Ter)	rs2148409748
NM_001143981.2(CHRDL1):c.1156+1G>T	rs2148409694
NM_001143981.2(CHRDL1):c.301+2T>G	rs587776868
NM_001143981.2(CHRDL1):c.483dup (p.Lys162fs)	rs2148463846
NM_001143981.2(CHRDL1):c.94+1G>A	rs2090111362
NM_001143981.2(CHRDL1):c.976A>T (p.Lys326Ter)	rs2148418538
NM_025219.3(DNAJC5):c.343CTC[1] (p.Leu116del)	rs587776892
NM_025219.3(DNAJC5):c.344T>G (p.Leu115Arg)	rs387907043
NM_025219.3(DNAJC5):c.370_399dup (p.Cys124_Cys133dup)	rs1600887859

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