ClinVar Miner

List of variants reported as association for bone development disease

Included ClinVar conditions (614):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005032.7(PLS3):c.321T>A (p.Gly107=) rs140121121 0.01269
NM_005032.7(PLS3):c.1471C>T (p.Gln491Ter) rs397518421
NM_005032.7(PLS3):c.235del (p.Tyr79fs) rs397518463

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