ClinVar Miner

List of variants studied for Huntington disease-like syndrome by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_003194.5(TBP):c.221_222insGC (p.Gln75fs) rs1290125655 0.00082
NM_001386393.1(PANK2):c.1112G>C (p.Arg371Pro) rs1241995212
NM_001386393.1(PANK2):c.606T>A (p.Cys202Ter) rs1555787799
NM_020655.4(JPH3):c.955C>T (p.Arg319Trp) rs148131421
NM_033305.3(VPS13A):c.3499_3503del (p.Ser1167fs) rs1827795601
NM_033305.3(VPS13A):c.904C>T (p.Leu302Phe) rs541051874

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