ClinVar Miner

List of variants reported as pathogenic for Meester-Loeys syndrome by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NC_000023.11:g.153501969_153522529del20561
NM_001711.6(BGN):c.238G>A (p.Gly80Ser) rs886037825
NM_001711.6(BGN):c.5G>A (p.Trp2Ter) rs886037823
NM_001711.6(BGN):c.908A>C (p.Gln303Pro) rs886037824

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