List of variants in gene PEX1 reported as uncertain significance for Heimler syndrome 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000466.3(PEX1):c.1360-7C>T	rs371890000	0.00029
NM_000466.3(PEX1):c.627G>A (p.Met209Ile)	rs200752969	0.00016
NM_000466.3(PEX1):c.147G>A (p.Val49=)	rs202230667	0.00005
NM_000466.3(PEX1):c.2059C>T (p.Arg687Trp)	rs138008298	0.00004
NM_000466.3(PEX1):c.254G>A (p.Gly85Glu)	rs771224088	0.00003
NM_000466.3(PEX1):c.2235A>T (p.Arg745Ser)	rs963232359	0.00001
NM_000466.3(PEX1):c.1688G>A (p.Gly563Asp)	rs2116181769
NM_000466.3(PEX1):c.1716C>A (p.His572Gln)	rs1792228135
NM_000466.3(PEX1):c.1966C>T (p.Pro656Ser)
NM_000466.3(PEX1):c.2099T>C (p.Ile700Thr)	rs1792017598
NM_000466.3(PEX1):c.927C>G (p.His309Gln)	rs2116244426

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