ClinVar Miner

List of variants in gene TRIO reported as pathogenic for Inborn genetic diseases

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_007118.4(TRIO):c.2302C>T (p.Gln768Ter) rs1554062562
NM_007118.4(TRIO):c.2359C>T (p.Gln787Ter) rs1554062588
NM_007118.4(TRIO):c.3119G>A (p.Trp1040Ter) rs1554064863
NM_007118.4(TRIO):c.3233G>A (p.Arg1078Gln) rs1745369142
NM_007118.4(TRIO):c.4292A>T (p.Lys1431Met) rs1747351918
NM_007118.4(TRIO):c.5274_5283del (p.Gly1759fs) rs1753758481

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