ClinVar Miner

List of variants in gene AP4S1 reported as benign for hereditary spastic paraplegia 52

Included ClinVar conditions (2):
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_001128126.3(AP4S1):c.295-34T>G rs11621299 0.88578
NM_001128126.3(AP4S1):c.139-110A>G rs7150619 0.46271
NM_001128126.3(AP4S1):c.138+63G>C rs6571386
NM_001128126.3(AP4S1):c.139-65C>G rs7155228

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