ClinVar Miner

List of variants studied for opsismodysplasia by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001567.4(INPPL1):c.115_128del (p.Gly39fs) rs2135414009
NM_001567.4(INPPL1):c.1963A>T (p.Ile655Phe) rs752247882

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