ClinVar Miner

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

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 154
Download table as spreadsheet
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_001372574.1(ATXN2):c.-91C>T rs695872 0.61029
NM_001372574.1(ATXN2):c.-162C>G rs695871 0.60874
NM_033305.3(VPS13A):c.9400-34A>T rs2025846 0.53041
NM_033305.3(VPS13A):c.3961-22A>G rs2275549 0.52711
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.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.*1378C>A rs13286867 0.30192
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.*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_033305.3(VPS13A):c.6379-27G>T rs56156608 0.10471
NM_033305.3(VPS13A):c.2288+20T>C rs12335955 0.10447
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.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.6379-7A>T rs759586753 0.07351
NM_001386393.1(PANK2):c.2T>A rs71647828 0.06976
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.*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_001386393.1(PANK2):c.189C>G (p.Pro63=) rs71647829 0.00808
NM_033305.3(VPS13A):c.228T>C (p.Thr76=) rs115443572 0.00762
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=) rs117485827 0.00672
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_153638.4(PANK2):c.276G>A (p.Arg92=) rs142832849 0.00544
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.5979C>T (p.Arg1993=) rs41289971 0.00487
NM_033305.3(VPS13A):c.*1458T>G rs139050715 0.00474
NM_033305.3(VPS13A):c.3083A>G (p.Glu1028Gly) rs148656796 0.00425
NM_033305.3(VPS13A):c.2037+8C>A rs41289961 0.00417
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.101-7T>C rs190684534 0.00338
NM_033305.3(VPS13A):c.2748A>G (p.Glu916=) rs73466090 0.00324
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.4007A>T (p.His1336Leu) rs142058362 0.00198
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_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr) rs141138349 0.00178
NM_033305.3(VPS13A):c.3078T>G (p.Thr1026=) rs141835897 0.00171
NM_001386393.1(PANK2):c.489G>A (p.Leu163=) rs71647837 0.00164
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_033305.3(VPS13A):c.5292G>T (p.Leu1764=) rs141528779 0.00103
NM_033305.3(VPS13A):c.6096-7C>T rs190144287 0.00061
NM_001386393.1(PANK2):c.298+15G>C rs566953264 0.00057
NM_000146.4(FTL):c.*24C>T rs368083362 0.00037
NM_000146.4(FTL):c.-121C>T rs11553228 0.00031
NM_033305.3(VPS13A):c.8907+10T>G rs373895244 0.00031
NM_033305.3(VPS13A):c.2124A>G (p.Ser708=) rs199682779 0.00029
NM_033305.3(VPS13A):c.6905G>A (p.Ser2302Asn) rs188070090 0.00026
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_033305.3(VPS13A):c.5439C>T (p.Ala1813=) rs117654083 0.00016
NM_033305.3(VPS13A):c.9037A>G (p.Ile3013Val) rs185663133 0.00011
NM_000146.4(FTL):c.250-6A>G rs370216913 0.00009
NM_033305.3(VPS13A):c.2922C>T (p.Pro974=) rs373768055 0.00009
NM_033305.3(VPS13A):c.5227C>T (p.Pro1743Ser) rs182495915 0.00009
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.*8C>T rs373178636 0.00005
NM_001372574.1(ATXN2):c.3322A>G (p.Met1108Val) rs775411387 0.00005
NM_033305.3(VPS13A):c.2964+5G>A rs139516538 0.00005
NM_033305.3(VPS13A):c.963G>A (p.Val321=) rs184828562 0.00005
NM_033305.3(VPS13A):c.1212G>A (p.Thr404=) rs367698917 0.00004
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_033305.3(VPS13A):c.2296A>G (p.Ile766Val) rs576941423 0.00001
NM_033305.3(VPS13A):c.3804A>C (p.Arg1268=) rs527418139 0.00001
NM_033305.3(VPS13A):c.4602T>C (p.Ser1534=) rs752134753 0.00001
NC_000004.11:g.3076606GCA[(?_26)]
NM_000146.4(FTL):c.103-14A>G rs769222073
NM_000146.4(FTL):c.234C>T (p.Leu78=) rs559383814
NM_001007026.1(ATN1):c.1462CAG[(6_35)] (p.Gln488[(6-35)])
NM_001007026.1(ATN1):c.1462CAG[17] (p.Gln488[17]) rs60216939
NM_001128164.2(ATXN1):c.588GCA[14] (p.Gln208dup) rs193922926
NM_001128164.2(ATXN1):c.636GCA[16] (p.Gln224_Gln225dup) rs751421308
NM_001128164.2(ATXN1):c.772G>T (p.Gly258Cys) rs144962740
NM_001372574.1(ATXN2):c.289-11dup rs144235483
NM_001372574.1(ATXN2):c.59AGC[8] (p.Gln28del) rs10560189
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
NM_002111.8(HTT):c.52CAG[?_25]
NM_003194.5(TBP):c.216_218del (p.Gln95del) rs71815788
NM_004993.5(ATXN3):c.886_888CAG(12_44) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
NM_004993.6(ATXN3):c.892CAG[12] (p.Gln302_Gln305dup) rs193922928
NM_033305.2(VPS13A):c.-183G>C rs12349389
NM_033305.3(VPS13A):c.*694C>A rs115104076
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.385+6_385+15del rs72275336
NM_033305.3(VPS13A):c.3961-6dup rs3216012
NM_033305.3(VPS13A):c.6039C>A (p.Thr2013=) rs528628591
NM_033305.3(VPS13A):c.7155+14dup rs747383490
NM_033305.3(VPS13A):c.8211+9del rs752070804

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