ClinVar Miner

List of variants reported as likely benign for Huntington disease-like syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_002103.5(GYS1):c.*841A>G rs75797604 0.01139
NM_002103.5(GYS1):c.1926G>A (p.Val642=) rs5451 0.00912
NM_001386393.1(PANK2):c.189C>G (p.Pro63=) rs71647829 0.00808
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=) rs117485827 0.00672
NM_002103.5(GYS1):c.*908G>A rs117997270 0.00664
NM_002103.5(GYS1):c.2013C>T (p.Asp671=) rs5452 0.00624
NM_153638.4(PANK2):c.276G>A (p.Arg92=) rs142832849 0.00544
NM_033305.3(VPS13A):c.5979C>T (p.Arg1993=) rs41289971 0.00487
NM_033305.3(VPS13A):c.3083A>G (p.Glu1028Gly) rs148656796 0.00425
NM_033305.3(VPS13A):c.2037+8C>A rs41289961 0.00417
NM_002103.5(GYS1):c.*450G>A rs3745693 0.00414
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033 0.00397
NM_153638.4(PANK2):c.137A>T (p.Asp46Val) rs148036492 0.00346
NM_033305.3(VPS13A):c.2667+12G>A rs199995355 0.00342
NM_033305.3(VPS13A):c.101-7T>C rs190684534 0.00338
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) rs41307461 0.00255
NM_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys) rs41289967 0.00213
NM_033305.3(VPS13A):c.3356G>A (p.Gly1119Glu) rs144358567 0.00207
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=) rs149037185 0.00199
NM_033305.3(VPS13A):c.5831-8T>C rs113702270 0.00190
NM_033305.3(VPS13A):c.9078-7C>T rs186819389 0.00183
NM_153638.4(PANK2):c.-11G>A rs71647826 0.00179
NM_002103.5(GYS1):c.*301G>A rs147489255 0.00165
NM_001386393.1(PANK2):c.489G>A (p.Leu163=) rs71647837 0.00164
NM_002103.5(GYS1):c.1848C>T (p.Ala616=) rs145789213 0.00163
NM_002103.5(GYS1):c.*421A>G rs181566066 0.00098
NM_002103.5(GYS1):c.*868A>G rs571576339 0.00083
NM_033305.3(VPS13A):c.6096-7C>T rs190144287 0.00061
NM_033305.3(VPS13A):c.7456A>G (p.Ile2486Val) rs142981309 0.00030
NM_033305.3(VPS13A):c.2124A>G (p.Ser708=) rs199682779 0.00029
NM_002103.5(GYS1):c.2043C>T (p.Ala681=) rs142265031 0.00023
NM_033305.3(VPS13A):c.1453-15C>T rs200334710 0.00020
NM_002103.5(GYS1):c.*370A>C rs185366453 0.00015
NM_153638.4(PANK2):c.280C>G (p.Arg94Gly) rs199680057 0.00015
NM_001386393.1(PANK2):c.624G>A (p.Ala208=) rs78631398 0.00006
NM_002103.5(GYS1):c.*659C>T rs367578611 0.00006
NM_002103.5(GYS1):c.2207G>A (p.Arg736His) rs367919986 0.00004
NM_002103.5(GYS1):c.*611C>T rs370792196 0.00003
NM_000146.4(FTL):c.362G>A (p.Arg121His) rs769449169 0.00001
NM_000146.4(FTL):c.103-14A>C rs769222073
NM_001386393.1(PANK2):c.*63dup rs143725982
NM_001386393.1(PANK2):c.1083-14_1083-13insCCCCCT rs1555789541
NM_002103.5(GYS1):c.*1113_*1116del rs148396922
NM_002103.5(GYS1):c.1615G>A (p.Glu539Lys) rs561646250
NM_002103.5(GYS1):c.1749C>A (p.Ile583=) rs146698792
NM_033305.3(VPS13A):c.283+20del rs199782752
NM_033305.3(VPS13A):c.3961-6del rs3216012
NM_033305.3(VPS13A):c.6039C>A (p.Thr2013=) rs528628591
NM_033305.3(VPS13A):c.6880-6dup rs140476942

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