ClinVar Miner

List of variants studied for microcephaly 6 with or without short stature by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_018451.5(CPAP):c.634G>T (p.Glu212Ter) rs765113367 0.00011
NM_018451.5(CPAP):c.289dup (p.Thr97fs) rs759188041 0.00004

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