ClinVar Miner

List of variants reported as benign for facial palsy, congenital, with ptosis and velopharyngeal dysfunction by Genome-Nilou Lab

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_032525.3(TUBB6):c.57+29C>A rs8086993 0.66961
NM_032525.3(TUBB6):c.-47C>T rs8086821 0.66786
NM_032525.3(TUBB6):c.-49T>A rs8087840 0.66760
NM_032525.3(TUBB6):c.-19G>T rs11548177 0.11872
NM_032525.3(TUBB6):c.165G>C (p.Ser55=) rs11267036

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