ClinVar Miner

List of variants reported as likely pathogenic for Huntington disease and related disorders by Mendelics

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001386393.1(PANK2):c.1151T>C (p.Leu384Ser) rs111863748
NM_001386393.1(PANK2):c.175_182del (p.Ser59fs) rs755653150
NM_001386393.1(PANK2):c.740G>C (p.Arg247Pro) rs754521581
NM_001940.4(ATN1):c.3182TGCACC[3] (p.1061LH[3]) rs2138219961

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