ClinVar Miner

List of variants reported as 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: 68
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HGVS dbSNP gnomAD frequency
NM_033305.3(VPS13A):c.*1024C>T rs9186 0.52644
NM_000146.4(FTL):c.163T>C (p.Leu55=) rs2230267 0.51379
NM_033305.3(VPS13A):c.9069A>G (p.Gly3023=) rs3737289 0.40290
NM_033305.3(VPS13A):c.*1378C>A rs13286867 0.30192
NM_033305.3(VPS13A):c.*222G>A rs12343797 0.19772
NM_033305.3(VPS13A):c.6492T>C (p.Asp2164=) rs7025532 0.18911
NM_001386393.1(PANK2):c.1083-14_1083-9dup rs10679953 0.15963
NM_033305.3(VPS13A):c.6378+15A>T rs12348097 0.14593
NM_033305.2(VPS13A):c.-181G>A rs117488726 0.10492
NM_033305.3(VPS13A):c.3045G>A (p.Pro1015=) rs11145366 0.10477
NM_002103.5(GYS1):c.*725C>T rs1042265 0.08927
NM_033305.3(VPS13A):c.*565G>A rs989391 0.08398
NM_033305.3(VPS13A):c.6027C>T (p.Tyr2009=) rs17424026 0.07721
NM_001386393.1(PANK2):c.2T>A rs71647828 0.06976
NM_033305.3(VPS13A):c.8571T>C (p.Tyr2857=) rs17340192 0.05788
NM_033305.3(VPS13A):c.5583A>G (p.Thr1861=) rs17423984 0.05526
NM_033305.3(VPS13A):c.*942C>T rs1048743 0.02380
NM_033305.3(VPS13A):c.2964+13A>G rs115996561 0.02367
NM_033305.3(VPS13A):c.3108T>C (p.Ile1036=) rs78046172 0.02340
NM_033305.3(VPS13A):c.1020A>G (p.Glu340=) rs76751358 0.02305
NM_033305.3(VPS13A):c.2718A>G (p.Val906=) rs79287753 0.02299
NM_033305.3(VPS13A):c.4469G>A (p.Arg1490Lys) rs76077278 0.02297
NM_033305.3(VPS13A):c.4509A>G (p.Gln1503=) rs79914457 0.02054
NM_033305.3(VPS13A):c.2693T>C (p.Val898Ala) rs78048112 0.01850
NM_033305.3(VPS13A):c.9382T>C (p.Leu3128=) rs34255276 0.01788
NM_033305.3(VPS13A):c.9027A>G (p.Pro3009=) rs17081163 0.01458
NM_033305.3(VPS13A):c.*1186A>G rs3177 0.01392
NM_033305.3(VPS13A):c.2391A>G (p.Pro797=) rs73466058 0.01375
NM_033305.3(VPS13A):c.5747G>A (p.Ser1916Asn) rs73467962 0.01369
NM_033305.3(VPS13A):c.5802A>G (p.Leu1934=) rs73654012 0.01345
NM_033305.3(VPS13A):c.7155G>A (p.Glu2385=) rs73449933 0.01319
NM_033305.3(VPS13A):c.7806+6A>G rs74810255 0.01231
NM_033305.3(VPS13A):c.5917G>A (p.Val1973Ile) rs41289969 0.00944
NM_033305.3(VPS13A):c.2910A>G (p.Glu970=) rs115565179 0.00932
NM_001386393.1(PANK2):c.*218A>G rs71647860 0.00876
NM_033305.3(VPS13A):c.9370C>A (p.His3124Asn) rs117983287 0.00817
NM_033305.3(VPS13A):c.228T>C (p.Thr76=) rs115443572 0.00762
NM_033305.3(VPS13A):c.8472-12C>T rs115077471 0.00651
NM_033305.3(VPS13A):c.5625A>G (p.Leu1875=) rs146280301 0.00643
NM_033305.3(VPS13A):c.7053T>C (p.Ala2351=) rs139753431 0.00641
NM_033305.3(VPS13A):c.3813-15T>C rs145835861 0.00639
NM_033305.3(VPS13A):c.9400-15A>C rs117688596 0.00615
NM_033305.3(VPS13A):c.3645C>A (p.Ala1215=) rs138687767 0.00582
NM_033305.3(VPS13A):c.6410A>G (p.Glu2137Gly) rs114232513 0.00574
NM_033305.3(VPS13A):c.5673G>A (p.Ser1891=) rs114699935 0.00559
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys) rs149840356 0.00532
NM_033305.3(VPS13A):c.8228A>C (p.Lys2743Thr) rs138308486 0.00517
NM_033305.3(VPS13A):c.9150G>A (p.Pro3050=) rs143089318 0.00488
NM_033305.3(VPS13A):c.*1458T>G rs139050715 0.00474
NM_000146.4(FTL):c.522C>T (p.His174=) rs73046709 0.00184
NM_033305.3(VPS13A):c.4927G>A (p.Asp1643Asn) rs74622901 0.00134
NM_153638.4(PANK2):c.281G>C (p.Arg94Pro) rs71647827 0.00115
NM_033305.3(VPS13A):c.4041C>T (p.Ala1347=) rs74983687 0.00113
NM_000146.4(FTL):c.*24C>T rs368083362 0.00037
NM_033305.3(VPS13A):c.5594C>T (p.Thr1865Ile) rs143449578 0.00023
NM_001386393.1(PANK2):c.50G>T (p.Gly17Val) rs528149001 0.00022
NM_000146.4(FTL):c.169G>A (p.Glu57Lys) rs201241191 0.00016
NM_000146.4(FTL):c.250-6A>G rs370216913 0.00009
NM_000146.4(FTL):c.*8C>T rs373178636 0.00005
NM_033305.3(VPS13A):c.2964+5G>A rs139516538 0.00005
NM_000146.4(FTL):c.73C>T (p.Leu25=) rs201971200 0.00003
NM_033305.3(VPS13A):c.8350T>G (p.Ser2784Ala) rs368916151 0.00002
NM_000146.4(FTL):c.103-14A>G rs769222073
NM_000146.4(FTL):c.234C>T (p.Leu78=) rs559383814
NM_001386393.1(PANK2):c.47G>C (p.Gly16Ala) rs3737084
NM_033305.2(VPS13A):c.-183G>C rs12349389
NM_033305.3(VPS13A):c.*694C>A rs115104076
NM_033305.3(VPS13A):c.3961-6dup rs3216012

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