List of variants reported as pathogenic by Genetics and Personalized Medicine Clinic, Tartu University Hospital

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys)	rs61732167	0.00112
NC_000004.12:g.8398067_17505522inv
NM_000251.3(MSH2):c.1164_1165delinsGT (p.Asn388_Arg389delinsLysTer)
NM_000251.3(MSH2):c.1283_1284del (p.His428fs)	rs2103752184
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys)	rs281864927

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