ClinVar Miner

List of variants reported as uncertain significance for Harel-Yoon syndrome by Hadassah Hebrew University Medical Center

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001170535.3(ATAD3A):c.229C>G (p.Leu77Val) rs138594222 0.00040
NM_001170535.3(ATAD3A):c.508C>T (p.Arg170Trp) rs1167820219 0.00001
NM_001170535.3(ATAD3A):c.150C>G (p.Phe50Leu) rs1641223867
NM_001170535.3(ATAD3A):c.1700AGA[1] (p.Lys568del) rs745393319
NM_001170535.3(ATAD3A):c.707G>T (p.Gly236Val) rs1641554297
NM_001170535.3(ATAD3A):c.980G>C (p.Arg327Pro) rs200238845

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