ClinVar Miner

List of variants in gene SEC23B studied for PTEN hamartoma tumor syndrome

Included ClinVar conditions (19):
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Gene type:
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Total variants: 18
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HGVS dbSNP
NC_000020.10:g.(?_18492869)_(18496380_?)del
NM_006363.6(SEC23B):c.1233+4C>T
NM_006363.6(SEC23B):c.1317G>T (p.Glu439Asp) rs147410912
NM_006363.6(SEC23B):c.1404+5G>A rs1555789463
NM_006363.6(SEC23B):c.1507C>T (p.Arg503Ter) rs1568617456
NM_006363.6(SEC23B):c.1649G>A (p.Arg550Gln) rs111572459
NM_006363.6(SEC23B):c.1665+6T>C
NM_006363.6(SEC23B):c.1781T>G (p.Val594Gly) rs752366963
NM_006363.6(SEC23B):c.2061G>T (p.Leu687=) rs7262532
NM_006363.6(SEC23B):c.2129C>T (p.Thr710Met)
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys) rs121918221
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp) rs121918222
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu) rs36023150
NM_006363.6(SEC23B):c.66C>T (p.Asn22=) rs144542988
NM_006363.6(SEC23B):c.689+1G>A rs398124226
NM_006363.6(SEC23B):c.816del (p.Ile272fs) rs1568606490
NM_006363.6(SEC23B):c.890C>T (p.Thr297Ile)
NM_006363.6(SEC23B):c.985G>T (p.Ala329Ser)

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