List of variants in gene PEX7 reported as likely benign for Rhizomelic chondrodysplasia punctata

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro)	rs113268723	0.00376
NM_000288.4(PEX7):c.94C>T (p.Leu32=)	rs886061118	0.00032
NM_000288.4(PEX7):c.171G>C (p.Gly57=)	rs750791932	0.00004
NM_000288.4(PEX7):c.297A>G (p.Lys99=)	rs766858149	0.00001
NM_000288.4(PEX7):c.681C>T (p.Asp227=)	rs1236779327	0.00001

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