ClinVar Miner

List of variants in gene combination LOC130057891, MESP2 reported as uncertain significance for dysostosis

Included ClinVar conditions (255):
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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001039958.2(MESP2):c.245A>G (p.Gln82Arg) rs1968366047
NM_001039958.2(MESP2):c.248G>C (p.Arg83Pro) rs986299993
NM_001039958.2(MESP2):c.255C>G (p.Ser85Arg) rs1377497655
NM_001039958.2(MESP2):c.278G>C (p.Arg93Pro) rs1968366878
NM_001039958.2(MESP2):c.320T>C (p.Phe107Ser) rs1968368157
NM_001039958.2(MESP2):c.378C>G (p.Arg126=) rs748816022

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