List of variants in gene PEX1 reported as pathogenic for not provided

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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: 20

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HGVS	dbSNP	gnomAD frequency
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)	rs61750420	0.00025
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)	rs61750418	0.00005
NM_000466.3(PEX1):c.1239+1G>T	rs756876301	0.00002
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp)	rs398123408	0.00002
NM_000466.3(PEX1):c.2730del (p.Leu910fs)	rs61750423	0.00002
NM_000466.3(PEX1):c.782_783del (p.Gln261fs)	rs749067142	0.00002
NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter)	rs398123409	0.00001
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter)	rs61750422	0.00001
NM_000466.3(PEX1):c.1108dup (p.Ile370fs)	rs61750406
NM_000466.3(PEX1):c.1131del (p.Asp378fs)	rs886043479
NM_000466.3(PEX1):c.130-2A>G	rs1585260993
NM_000466.3(PEX1):c.1803+1G>T	rs1562857871
NM_000466.3(PEX1):c.1838_1839dup (p.Lys614fs)	rs1554372561
NM_000466.3(PEX1):c.1900+2T>C	rs1562857198
NM_000466.3(PEX1):c.2083_2084del (p.Met695fs)	rs2116156265
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)	rs61750415
NM_000466.3(PEX1):c.2226+2T>C	rs1792005848
NM_000466.3(PEX1):c.2396dup (p.Ser800fs)	rs778871894
NM_000466.3(PEX1):c.2468del (p.Pro823fs)	rs766947924
NM_000466.3(PEX1):c.403C>T (p.Arg135Ter)	rs201415996

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