List of variants in gene GATAD1, PEX1 studied for Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_000466.3(PEX1):c.2843G>A (p.Arg948Gln)	rs535271603	0.00006
NM_000466.3(PEX1):c.2926+1G>A	rs267608179	0.00005
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr)	rs61750427	0.00005
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His)	rs1484321655	0.00001
NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs)	rs886043558	0.00001
NM_000466.3(PEX1):c.2849dup (p.His951fs)	rs2484638489
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter)	rs1057517481
NM_000466.3(PEX1):c.2887C>T (p.Gln963Ter)	rs2484638196
NM_000466.3(PEX1):c.2916del (p.Gly973fs)	rs61750426
NM_000466.3(PEX1):c.2932dup (p.Tyr978fs)	rs2484637066
NM_000466.3(PEX1):c.3003del (p.Lys1001fs)	rs1562847911
NM_000466.3(PEX1):c.3043_3044del (p.Glu1015fs)	rs2484629457
NM_000466.3(PEX1):c.3115del (p.Thr1039fs)	rs1562846257
NM_000466.3(PEX1):c.3258_3261del (p.Phe1086fs)	rs2484621668
NM_000466.3(PEX1):c.3269_3270insTAAAGGA (p.Ser1091fs)	rs2484621589
NM_000466.3(PEX1):c.3298G>T (p.Gly1100Ter)	rs2484621408
NM_000466.3(PEX1):c.3308del (p.Gly1103fs)	rs2484621346
NM_000466.3(PEX1):c.3311T>G (p.Leu1104Ter)	rs2484621318
NM_000466.3(PEX1):c.3422del (p.Gly1141fs)	rs2484620697
NM_000466.3(PEX1):c.3445C>T (p.Gln1149Ter)	rs2484613763
NM_000466.3(PEX1):c.3573del (p.Glu1191fs)	rs1585211048
NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs)	rs769836601

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