ClinVar Miner

List of variants studied for neurocristopathy by Diagnostics Centre, Carl Von Ossietzky University Oldenburg

Included ClinVar conditions (174):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001031726.4(C19orf12):c.164_166delGGG rs398122409
NM_006941.4(SOX10):c.512A>C (p.Tyr171Ser)
NM_015726.4(DCAF8):c.1679G>A (p.Arg560His)

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