List of variants in gene PEX5 studied for Rhizomelic chondrodysplasia punctata type 5

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_001351132.2(PEX5):c.967-26C>G	rs3816424	0.29645
NM_001351132.2(PEX5):c.1902G>A (p.Met634Ile)	rs145886418	0.00006
NM_001351132.2(PEX5):c.664A>G (p.Ile222Val)	rs778800705	0.00002
NM_001351132.2(PEX5):c.147+4A>G
NM_001351132.2(PEX5):c.147+77_147+121del
NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys)	rs61752138
NM_001351132.2(PEX5):c.1819dup (p.Leu607fs)
NM_001351132.2(PEX5):c.677dup (p.Val227fs)	rs796051881

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