List of variants reported as pathogenic by Division of Genetic Medicine, Lausanne University Hospital

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001267727.2(ARSG):c.253T>C (p.Ser85Pro)	rs141748845	0.00001
NM_001267727.2(ARSG):c.338G>A (p.Gly113Asp)	rs1244718647	0.00001
NC_000002.12:g.118554361_118617148delins118227316_118229892
NC_000002.12:g.118561491_118589321del
NM_001267727.2(ARSG):c.1326del (p.Ser443fs)	rs751461705
NM_001326411.2(PISD):c.1006-12_1006-3del	rs1410592269
NM_001330588.2(TPP2):c.2394-550_2952+659del
NM_001426.4(EN1):c.317dup (p.Ile107fs)	rs1678284190

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