ClinVar Miner

List of variants reported as uncertain significance for X-linked spondyloepimetaphyseal dysplasia

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001711.6(BGN):c.17G>A (p.Arg6His) rs781931209 0.00002
NM_001711.6(BGN):c.955G>A (p.Asp319Asn) rs933381952 0.00001
NM_001711.6(BGN):c.645C>G (p.Ile215Met) rs2089802360
NM_001711.6(BGN):c.682C>T (p.Pro228Ser) rs2089804261

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