ClinVar Miner

List of variants in gene ALDH4A1 reported as likely pathogenic for Deficiency of pyrroline-5-carboxylate reductase

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Gene type:		Distinguish antisense genes from sense genes
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Total variants: 4

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HGVS	dbSNP
NM_003748.4(ALDH4A1):c.1571G>A (p.Arg524Gln)
NM_003748.4(ALDH4A1):c.21del (p.Leu8fs)	rs387906314
NM_003748.4(ALDH4A1):c.298-1G>C	rs1557620472
NM_003748.4(ALDH4A1):c.866+1G>A	rs78532707

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