ClinVar Miner

List of variants in gene ARV1 reported as pathogenic for complex neurodevelopmental disorder

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_022786.3(ARV1):c.565G>A (p.Gly189Arg) rs730882241 0.00002
NM_022786.3(ARV1):c.294+1G>A rs150619347 0.00001
NM_022786.3(ARV1):c.175-3_175-2inv
NM_022786.3(ARV1):c.518dup (p.Pro174fs) rs544784472
NM_022786.3(ARV1):c.674-2A>T rs1192627743

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