List of variants in gene MAK reported as uncertain significance 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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001242957.3(MAK):c.359-13G>A	rs76972797	0.00068
NM_001242957.3(MAK):c.1144-10T>C	rs202001756	0.00026
NM_001242957.3(MAK):c.1834G>C (p.Gly612Arg)	rs201628941	0.00023
NM_001242957.3(MAK):c.356A>G (p.His119Arg)	rs200506656	0.00019
NM_001242957.3(MAK):c.647T>C (p.Leu216Ser)	rs182178532	0.00008
NM_001242957.3(MAK):c.1144-8C>T	rs776541315	0.00002
NM_001242957.3(MAK):c.1317-12T>C	rs756170824	0.00001
NM_001242957.3(MAK):c.1698C>A (p.Tyr566Ter)	rs186643840	0.00001
NM_001242957.3(MAK):c.1597+13T>A	rs1773369108
NM_001242957.3(MAK):c.1673-15A>G	rs1772880607
NM_001242957.3(MAK):c.1930T>C (p.Tyr644His)	rs1581624496
NM_001242957.3(MAK):c.358+12T>C	rs200703968

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