ClinVar Miner

List of variants studied for Meester-Loeys syndrome by OMIM

Included ClinVar conditions (2):

Meester-Loeys syndrome
X-linked spondyloepimetaphyseal dysplasia; Meester-Loeys syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
BGN, 21-KB DEL (SCV000266570)
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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