List of variants studied for Zellweger spectrum disorders by Mendelics

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_004813.4(PEX16):c.346G>A (p.Val116Ile)	rs10742772	0.99994
NM_000318.3(PEX2):c.550T>C (p.Cys184Arg)	rs10087163	0.98578
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val)	rs35830695	0.07353
NM_001127649.3(PEX26):c.457C>G (p.Leu153Val)	rs12484657	0.01096
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val)	rs115960224	0.00687
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg)	rs142645936	0.00585
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser)	rs147530802	0.00493
NM_000287.4(PEX6):c.510_511del (p.Asp172fs)	rs61753211	0.00001
NM_003846.3(PEX11B):c.1A>G (p.Met1Val)	rs782262926	0.00001
NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del)	rs751058068
NM_000287.4(PEX6):c.1565G>A (p.Arg522Gln)	rs374396138
NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp)	rs61753230
NM_001351132.2(PEX5):c.1561-44_1561-43insTCTGAGTCGGTGGAGTAATGTGCAGAGTTTGA	rs141721291
NM_001351132.2(PEX5):c.551+113_551+114dup	rs5796268
NM_002617.4(PEX10):c.52G>C (p.Asp18His)	rs61750432
NM_002617.4(PEX10):c.827G>C (p.Cys276Ser)	rs1414973726

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