ClinVar Miner

List of variants in gene STX1B reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_052874.5(STX1B):c.140C>T (p.Ser47Leu) rs200979563 0.00001
NM_052874.5(STX1B):c.187G>T (p.Ala63Ser) rs778453959 0.00001
NM_052874.5(STX1B):c.154C>A (p.Gln52Lys)
NM_052874.5(STX1B):c.258C>A (p.Asn86Lys)
NM_052874.5(STX1B):c.334C>A (p.Leu112Met)
NM_052874.5(STX1B):c.628G>A (p.Glu210Lys) rs2056573886
NM_052874.5(STX1B):c.683T>C (p.Met228Thr)
NM_052874.5(STX1B):c.712C>A (p.His238Asn) rs771509690
NM_052874.5(STX1B):c.713A>G (p.His238Arg) rs1567376724
NM_052874.5(STX1B):c.865T>C (p.Ter289Gln) rs2143660569

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