ClinVar Miner

List of variants reported as benign for Huntington disease and related disorders by Invitae

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000146.4(FTL):c.163T>C (p.Leu55=) rs2230267 0.51379
NM_001386393.1(PANK2):c.1083-14_1083-9dup rs10679953 0.15963
NM_001386393.1(PANK2):c.2T>A rs71647828 0.06976
NM_001386393.1(PANK2):c.189C>G (p.Pro63=) rs71647829 0.00808
NM_153638.4(PANK2):c.276G>A (p.Arg92=) rs142832849 0.00544
NM_153638.4(PANK2):c.137A>T (p.Asp46Val) rs148036492 0.00346
NM_000146.4(FTL):c.522C>T (p.His174=) rs73046709 0.00184
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_153638.4(PANK2):c.281G>C (p.Arg94Pro) rs71647827 0.00115
NM_001386393.1(PANK2):c.298+15G>C rs566953264 0.00057
NM_000146.4(FTL):c.-121C>T rs11553228 0.00031
NM_001386393.1(PANK2):c.132C>T (p.Asp44=) rs781106176 0.00006
NM_001386393.1(PANK2):c.624G>A (p.Ala208=) rs78631398 0.00006
NM_000146.4(FTL):c.73C>T (p.Leu25=) rs201971200 0.00003
NM_000146.4(FTL):c.234C>T (p.Leu78=) rs559383814
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.255G>T (p.Ser85=) rs375741383
NM_001386393.1(PANK2):c.299-14del
NM_001386393.1(PANK2):c.47G>C (p.Gly16Ala) rs3737084
NM_001386393.1(PANK2):c.652-18A>C rs200451247

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