List of variants in gene PGAP2 reported as uncertain significance for congenital limb malformation

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_014489.4(PGAP2):c.349-910C>A	rs773988754	0.00002
NM_001346397.2(PGAP2):c.10A>G (p.Ile4Val)	rs1362392252	0.00001
NM_014489.4(PGAP2):c.391dup (p.Glu131fs)	rs1590414565
NM_014489.4(PGAP2):c.392A>G (p.Glu131Gly)	rs533117826
NM_014489.4(PGAP2):c.395T>G (p.Val132Gly)	rs551147697
NM_014489.4(PGAP2):c.615T>A (p.Asn205Lys)
NM_014489.4(PGAP2):c.657C>T (p.Leu219=)

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