List of variants in gene MAK 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: 11

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HGVS	dbSNP	gnomAD frequency
NM_001242957.3(MAK):c.497G>A (p.Arg166His)	rs387906648	0.00002
NM_001242957.3(MAK):c.37G>A (p.Gly13Ser)	rs387906647	0.00001
NM_001242957.3(MAK):c.814C>T (p.Arg272Ter)	rs753314164	0.00001
MAK, 353-BP ALU INS, EX9
NM_001242957.3(MAK):c.1632del (p.Cys545fs)	rs1773160727
NM_001242957.3(MAK):c.340dup (p.Ala114fs)	rs527236082
NM_001242957.3(MAK):c.388A>C (p.Asn130His)	rs387906646
NM_001242957.3(MAK):c.393delinsACCTT (p.Leu132fs)	rs1581727126
NM_001242957.3(MAK):c.718C>T (p.Gln240Ter)	rs779514800
NM_001242957.3(MAK):c.7_10dup (p.Tyr4fs)
NM_001242957.3:c.1297_1298insAlu

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