ClinVar Miner

List of variants studied for microcephaly and chorioretinopathy 1 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: 3
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HGVS dbSNP gnomAD frequency
NM_020461.4(TUBGCP6):c.5139C>T (p.His1713=) rs149152116 0.00206
NM_020461.4(TUBGCP6):c.3732C>T (p.His1244=) rs140699312
NM_020461.4(TUBGCP6):c.4317C>A (p.Ser1439=) rs79022493

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