ClinVar Miner

List of variants reported as benign for Huntington disease-like syndrome by Genome-Nilou Lab

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_033305.3(VPS13A):c.2512+116A>G rs2050831 0.84346
NM_033305.3(VPS13A):c.8105+81G>A rs7043232 0.65470
NM_033305.3(VPS13A):c.9400-34A>T rs2025846 0.53041
NM_033305.3(VPS13A):c.3961-22A>G rs2275549 0.52711
NM_000146.4(FTL):c.163T>C (p.Leu55=) rs2230267 0.51379
NM_033305.3(VPS13A):c.101-62A>G rs12552898 0.51020
NM_033305.3(VPS13A):c.9069A>G (p.Gly3023=) rs3737289 0.40290
NM_033305.3(VPS13A):c.9078-133A>G rs10869920 0.39381
NM_033305.3(VPS13A):c.1901-215G>A rs2022444 0.20477
NM_033305.3(VPS13A):c.2170+42G>A rs2021998 0.20458
NM_033305.3(VPS13A):c.6492T>C (p.Asp2164=) rs7025532 0.18911
NM_033305.3(VPS13A):c.6378+15A>T rs12348097 0.14593
NM_033305.3(VPS13A):c.3045G>A (p.Pro1015=) rs11145366 0.10477
NM_033305.3(VPS13A):c.6379-27G>T rs56156608 0.10471
NM_033305.3(VPS13A):c.2288+20T>C rs12335955 0.10447
NM_033305.3(VPS13A):c.2825-63T>G rs17423029 0.07996
NM_033305.3(VPS13A):c.7026+62A>G rs17424248 0.07843
NM_033305.3(VPS13A):c.2428-50G>A rs17063468 0.07779
NM_033305.3(VPS13A):c.6027C>T (p.Tyr2009=) rs17424026 0.07721
NM_033305.3(VPS13A):c.7027-54A>G rs72746022 0.06290
NM_033305.3(VPS13A):c.8571T>C (p.Tyr2857=) rs17340192 0.05788
NM_033305.3(VPS13A):c.8553+31G>C rs72746094 0.05781
NM_033305.3(VPS13A):c.8667+106A>G rs17340234 0.05621
NM_033305.3(VPS13A):c.5583A>G (p.Thr1861=) rs17423984 0.05526
NM_033305.3(VPS13A):c.3508-51A>G rs1317305 0.05518
NM_033305.3(VPS13A):c.3813-171C>G rs17423381 0.05518
NM_033305.3(VPS13A):c.1596-31C>T rs72742601 0.05251
NM_033305.3(VPS13A):c.883-16A>C rs72742584 0.05222
NM_033305.3(VPS13A):c.3645C>A (p.Ala1215=) rs138687767 0.00582
NM_033305.3(VPS13A):c.3356G>A (p.Gly1119Glu) rs144358567 0.00207
NM_001386393.1(PANK2):c.47G>C (p.Gly16Ala) rs3737084
NM_033305.3(VPS13A):c.2037+191T>C rs10115162
NM_033305.3(VPS13A):c.3118+66A>C rs11145367
NM_033305.3(VPS13A):c.3508-44G>T rs1317304
NM_033305.3(VPS13A):c.3961-6dup rs3216012

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