ClinVar Miner

List of variants reported as uncertain significance for bone disorder by Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud

Included ClinVar conditions (1436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_006766.5(KAT6A):c.3316G>A (p.Asp1106Asn) rs546174187 0.00003
NM_133433.4(NIPBL):c.193C>G (p.Leu65Val) rs925563626 0.00001
NM_001104631.2(PDE4D):c.983A>C (p.Gln328Pro)

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