ClinVar Miner

List of variants studied for bone disorder by Undiagnosed Rare Disease Clinic, Indiana University School of Medicine

Included ClinVar conditions (1416):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_003791.4(MBTPS1):c.2255G>T (p.Gly752Val) rs967208601 0.00001
NM_003791.4(MBTPS1):c.2831+5G>T rs377109607

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