ClinVar Miner

List of variants in gene VPS13A reported as pathogenic for Huntington disease-like syndrome

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_033305.3(VPS13A):c.3556_3557dup (p.Val1187fs) rs779746050 0.00008
NM_033305.3(VPS13A):c.3889C>T (p.Arg1297Ter) rs200280742 0.00004
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs) rs951347128 0.00003
NM_033305.3(VPS13A):c.2191C>T (p.Arg731Ter) rs771943305 0.00002
NM_033305.3(VPS13A):c.9109C>T (p.Arg3037Ter) rs199807227 0.00002
NM_033305.3(VPS13A):c.3232G>T (p.Glu1078Ter) rs1827161118 0.00001
NM_033305.3(VPS13A):c.622C>T (p.Arg208Ter) rs119477053 0.00001
NM_033305.3(VPS13A):c.7867C>T (p.Arg2623Ter) rs1055609567 0.00001
NM_033305.3(VPS13A):c.799C>T (p.Arg267Ter) rs771004767 0.00001
NM_033305.3(VPS13A):c.9403C>T (p.Arg3135Ter) rs148173878 0.00001
NG_008931.2:g.(188110_192927)_(194341_195522)del
NG_008931.2:g.(?_87553)_(87693_?)del
NM_033305.3(VPS13A):c.1305G>A (p.Trp435Ter) rs761923202
NM_033305.3(VPS13A):c.144+1G>C
NM_033305.3(VPS13A):c.2326C>T (p.Arg776Ter) rs1417246536
NM_033305.3(VPS13A):c.2512+1G>A
NM_033305.3(VPS13A):c.269T>A (p.Ile90Lys) rs119477052
NM_033305.3(VPS13A):c.2951T>A (p.Leu984Ter)
NM_033305.3(VPS13A):c.2953C>T (p.Gln985Ter) rs1827048548
NM_033305.3(VPS13A):c.337C>T (p.Gln113Ter) rs780664594
NM_033305.3(VPS13A):c.3499_3503del (p.Ser1167fs) rs1827795601
NM_033305.3(VPS13A):c.4411C>T (p.Arg1471Ter) rs1193250444
NM_033305.3(VPS13A):c.4918C>T (p.Gln1640Ter) rs1829478568
NM_033305.3(VPS13A):c.555+1G>A rs1590003601
NM_033305.3(VPS13A):c.5899del (p.Arg1967fs)
NM_033305.3(VPS13A):c.5909_5910del (p.Glu1970fs) rs1251833565
NM_033305.3(VPS13A):c.6059del (p.Pro2020fs) rs781242821
NM_033305.3(VPS13A):c.6283del (p.Ser2095fs) rs1587612257
NM_033305.3(VPS13A):c.6367_6374del (p.Tyr2123fs) rs1485186943
NM_033305.3(VPS13A):c.672_676del (p.Tyr224_Ser226delinsTer) rs2131153683
NM_033305.3(VPS13A):c.7214T>G (p.Leu2405Ter)
NM_033305.3(VPS13A):c.7419+1G>A rs763654348
NM_033305.3(VPS13A):c.755-1G>A
NM_033305.3(VPS13A):c.7736_7739del (p.Arg2579fs) rs748828128
NM_033305.3(VPS13A):c.8035G>A (p.Ala2679Thr) rs1587653832
NM_033305.3(VPS13A):c.8148del (p.Phe2719fs)
NM_033305.3(VPS13A):c.9287_9290dup (p.Thr3098fs) rs1834577610

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