ClinVar Miner

List of variants in gene combination LOC126862457, VPS53 reported as benign for central nervous system malformation

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001128159.3(VPS53):c.1117-26T>C rs4968055 0.96284
NM_001128159.3(VPS53):c.1117-91C>G rs7225041 0.30116
NM_001128159.3(VPS53):c.1117-3C>T rs56807006 0.08020
NM_001128159.3(VPS53):c.1218+57G>C rs10521105

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