ClinVar Miner

List of variants in gene MESP2 reported as likely pathogenic for autosomal recessive spondylocostal dysostosis

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
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.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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