ClinVar Miner

List of variants reported as likely pathogenic for Spondylocostal dysostosis 2

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Total variants: 12
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HGVS dbSNP
NM_001039958.2(MESP2):c.116C>A (p.Ser39Ter) rs1206731716
NM_001039958.2(MESP2):c.11C>A (p.Ser4Ter) rs1555439013
NM_001039958.2(MESP2):c.229G>T (p.Gly77Ter) rs538996447
NM_001039958.2(MESP2):c.241G>T (p.Gly81Ter) rs118204034
NM_001039958.2(MESP2):c.249_256dup (p.Ala86fs) rs1555439049
NM_001039958.2(MESP2):c.250C>T (p.Gln84Ter) rs762067626
NM_001039958.2(MESP2):c.258_261del (p.Glu88fs) rs1452984345
NM_001039958.2(MESP2):c.343_344dup (p.Gly116fs) rs1555439061
NM_001039958.2(MESP2):c.349C>T (p.Gln117Ter) rs1555439063
NM_001039958.2(MESP2):c.48G>A (p.Trp16Ter) rs912110093
NM_001039958.2(MESP2):c.586C>T (p.Gln196Ter) rs1555439118
NM_001039958.2(MESP2):c.737G>A (p.Trp246Ter) rs1555439152

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