ClinVar Miner

List of variants in gene STX3 reported as pathogenic for not provided

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NC_000011.9:g.(?_59523079)_(59540787_?)del
NM_004177.5(STX3):c.177_178del (p.Tyr60fs) rs1359585490
NM_004177.5(STX3):c.424C>T (p.Arg142Ter)
NM_004177.5(STX3):c.442C>T (p.Arg148Ter)
NM_004177.5(STX3):c.589C>T (p.Arg197Ter) rs746797808
NM_004177.5(STX3):c.718_725del (p.Val240fs)
NM_004177.5(STX3):c.739C>T (p.Arg247Ter) rs575668968
NM_004177.5(STX3):c.756del (p.Ala253fs)

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