List of variants in gene PEX12 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000286.3(PEX12):c.733T>A (p.Leu245Ile)	rs12941376	0.00945
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser)	rs147530802	0.00493
NM_000286.3(PEX12):c.681-2A>C	rs187526749	0.00010
NM_000286.3(PEX12):c.737C>A (p.Ser246Tyr)	rs200413804	0.00010
NM_000286.3(PEX12):c.126+1G>T	rs144259891	0.00003
NM_000286.3(PEX12):c.538C>T (p.Arg180Ter)	rs61752103	0.00003
NM_000286.3(PEX12):c.744dup (p.Thr249fs)	rs61752108	0.00001
NM_000286.3(PEX12):c.268_271del (p.Lys90fs)	rs61752100
NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del)	rs751058068
NM_000286.3(PEX12):c.445_454del (p.Ser149fs)	rs1567730901
NM_000286.3(PEX12):c.530AAC[1] (p.Gln178del)	rs61752102
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter)	rs61752106
NM_000286.3(PEX12):c.681-3_681-2del	rs138568975
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs)	rs61752107
NM_000286.3(PEX12):c.888_889del (p.Leu297fs)	rs398123301
NM_000286.3(PEX12):c.959C>T (p.Ser320Phe)	rs28936697
NM_000286.3(PEX12):c.987_988del (p.Phe330fs)	rs764657253

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