ClinVar Miner

List of variants in gene PANK2 reported as benign for Huntington disease-like syndrome

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001386393.1(PANK2):c.1083-14_1083-9dup rs10679953 0.15963
NM_001386393.1(PANK2):c.*218A>G rs71647860 0.00876
NM_153638.4(PANK2):c.137A>T (p.Asp46Val) rs148036492 0.00346
NM_001386393.1(PANK2):c.960T>C (p.Thr320=) rs149583615 0.00180
NM_001386393.1(PANK2):c.489G>A (p.Leu163=) rs71647837 0.00164
NM_001386393.1(PANK2):c.624G>A (p.Ala208=) rs78631398 0.00006
NM_001386393.1(PANK2):c.1083-13del
NM_001386393.1(PANK2):c.1083-14_1083-13insCCCCCT rs1555789541
NM_001386393.1(PANK2):c.1207-12dup rs1252234662
NM_001386393.1(PANK2):c.1332+16C>A rs142997448
NM_001386393.1(PANK2):c.299-14del
NM_001386393.1(PANK2):c.652-18A>C rs200451247

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