ClinVar Miner

List of variants studied for osteogenesis imperfecta type 8 by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_022356.4(P3H1):c.1080+1G>T rs72659351 0.00068
NM_022356.4(P3H1):c.2209T>C (p.Ter737Arg)
NM_022356.4(P3H1):c.927del (p.Phe309fs)

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