ClinVar Miner

List of variants in gene HTRA2, LOC129934143 studied for 3-methylglutaconic aciduria type 8

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Gene type: Distinguish antisense genes from sense genes
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_013247.5(HTRA2):c.728_730delinsCAT (p.Leu243_Pro244delinsProSer)	rs1057519082
NM_013247.5(HTRA2):c.739C>T (p.Arg247Cys)	rs763567914
NM_013247.5(HTRA2):c.755G>A (p.Arg252Gln)

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