List of variants reported as pathogenic by Research Laboratory of Human Genome and Multifactorial Diseases, Faculty of Pharmacy, University of Monastir

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_004937.3(CTNS):c.262C>A (p.Gln88Lys)	rs113875421	0.00004
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)	rs267606754	0.00001
NM_000147.5(FUCA1):c.170del (p.Lys57fs)	rs1639663980
NM_000147.5(FUCA1):c.237del (p.Trp79fs)	rs1639662557
NM_000147.5(FUCA1):c.662+5G>C	rs941666554
NM_000147.5(FUCA1):c.995G>A (p.Gly332Glu)	rs1177361428
NM_000202.8(IDS):c.1350del (p.Pro451fs)	rs2089306467
NM_000202.8(IDS):c.610C>T (p.Gln204Ter)	rs1557339532
NM_004937.3(CTNS):c.681+8del	rs2150923282

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