ClinVar Miner

List of variants studied for infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004268.5(MED17):c.859+18T>C rs657177 0.94089
NM_004268.5(MED17):c.195C>G (p.Gly65=) rs7116967 0.55835
NM_004268.5(MED17):c.207G>C (p.Glu69Asp) rs2848477 0.55147
NM_004268.5(MED17):c.1329-11G>A rs655699 0.51385
NM_004268.5(MED17):c.1092G>A (p.Pro364=) rs34057693 0.11178

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