List of variants in gene PANK2 reported as pathogenic for inborn disorder of amino acid metabolism

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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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg)	rs137852959	0.00024
NM_001386393.1(PANK2):c.987del (p.Arg330fs)	rs544616523	0.00001
NM_001386393.1(PANK2):c.962T>C (p.Phe321Ser)	rs863223343

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