List of variants in gene LOC129998796, PEX1 studied for Peroxisome biogenesis disorder 1A (Zellweger)

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

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000466.3(PEX1):c.-53C>G	rs12386703	0.07798
NM_000466.3(PEX1):c.-43T>G	rs572810743	0.00058
NM_000466.3(PEX1):c.-19A>G	rs368326503	0.00016
NM_000466.3(PEX1):c.2T>C (p.Met1Thr)	rs766020928	0.00002
NM_000466.3(PEX1):c.-45T>C	rs886062509	0.00001
NM_000466.3(PEX1):c.-77C>G	rs1301449696	0.00001
NM_000466.3(PEX1):c.1A>T (p.Met1Leu)	rs1057517501	0.00001
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter)	rs762679408	0.00001
NM_000466.3(PEX1):c.-74A>G	rs886062510
NM_000466.3(PEX1):c.-82C>G	rs1169565016
NM_000466.3(PEX1):c.1A>C (p.Met1Leu)	rs1057517501
NM_000466.3(PEX1):c.2T>G (p.Met1Arg)	rs766020928
NM_000466.3(PEX1):c.36_38dup (p.Gly14dup)	rs1554378403
NM_000466.3(PEX1):c.3G>A (p.Met1Ile)	rs786204704

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