List of variants reported as pathogenic by Codex Genetics Limited

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg)	rs34778348	0.00058
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)	rs201477273	0.00033
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp)	rs387907097	0.00006
NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg)	rs121909353	0.00003
NM_000021.4(PSEN1):c.811C>G (p.Leu271Val)	rs63750886
NM_000166.6(GJB1):c.-103C>T	rs863224971
NM_001032382.2(PQBP1):c.461_462del (p.Glu154fs)	rs606231193
NM_002739.5(PRKCG):c.301C>T (p.His101Tyr)	rs121918511
NM_014946.4(SPAST):c.1507C>T (p.Arg503Trp)	rs864622162
NM_173500.4(TTBK2):c.1306_1307del (p.Asp436fs)	rs318240735
NM_173500.4(TTBK2):c.1329dup (p.Arg444fs)	rs80356538
NM_182961.4(SYNE1):c.[20263C>T;8889del]
NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro)	rs33949390

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