ClinVar Miner

List of variants in gene VPS13A reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 105
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HGVS dbSNP gnomAD frequency
NM_033305.3(VPS13A):c.3961-2A>C rs1244139989 0.00004
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs) rs951347128 0.00003
NM_033305.3(VPS13A):c.7953+1G>A rs372141290 0.00002
NM_033305.3(VPS13A):c.188-2A>G rs1312425146 0.00001
NM_033305.3(VPS13A):c.495+1G>A rs1447585760 0.00001
NM_033305.3(VPS13A):c.7420-2A>C rs1175632662 0.00001
NM_033305.3(VPS13A):c.7653-2A>G rs779075858 0.00001
NM_033305.3(VPS13A):c.7867C>T (p.Arg2623Ter) rs1055609567 0.00001
NM_033305.3(VPS13A):c.8035+1G>A rs1244227519 0.00001
NM_033305.3(VPS13A):c.8325+1G>A rs1459022689 0.00001
NM_033305.3(VPS13A):c.8907+2T>A rs1479800564 0.00001
NC_000009.11:g.(?_79814851)_(79843190_?)dup
NC_000009.11:g.(?_79968430)_(79969529_?)del
NC_000009.11:g.(?_80018142)_(80018247_?)dup
NC_000009.11:g.(?_80020770)_(80022533_?)dup
NM_033305.3(VPS13A):c.1161+1G>T
NM_033305.3(VPS13A):c.14C>A (p.Ser5Ter) rs2131030007
NM_033305.3(VPS13A):c.1616C>G (p.Ser539Ter)
NM_033305.3(VPS13A):c.1A>T (p.Met1Leu) rs2131029946
NM_033305.3(VPS13A):c.2037+1G>A
NM_033305.3(VPS13A):c.2038-1G>A
NM_033305.3(VPS13A):c.2252_2253insGA (p.Lys752fs) rs1825188183
NM_033305.3(VPS13A):c.2427+1G>A rs1327100271
NM_033305.3(VPS13A):c.2500del (p.Val834fs) rs2131325474
NM_033305.3(VPS13A):c.2512+2T>C rs2131325491
NM_033305.3(VPS13A):c.2513-2A>T rs1037030970
NM_033305.3(VPS13A):c.2667+1G>T rs2131331144
NM_033305.3(VPS13A):c.2668-2A>G rs2131332247
NM_033305.3(VPS13A):c.2701del (p.Cys901fs) rs1554879059
NM_033305.3(VPS13A):c.283+2T>G rs2131123295
NM_033305.3(VPS13A):c.2964+2T>C
NM_033305.3(VPS13A):c.3114del (p.Lys1038fs)
NM_033305.3(VPS13A):c.3235+1G>T
NM_033305.3(VPS13A):c.3236-2A>G rs2131350326
NM_033305.3(VPS13A):c.3340-2A>C
NM_033305.3(VPS13A):c.3507+1G>A rs2131372085
NM_033305.3(VPS13A):c.3743_3746dup (p.Ser1249fs)
NM_033305.3(VPS13A):c.3812+1G>T
NM_033305.3(VPS13A):c.386-2A>G rs2131140222
NM_033305.3(VPS13A):c.3961-2A>G rs1244139989
NM_033305.3(VPS13A):c.4115-2A>C
NM_033305.3(VPS13A):c.4246dup (p.Ser1416fs) rs2131427489
NM_033305.3(VPS13A):c.4356del (p.Ser1452_Leu1453insTer)
NM_033305.3(VPS13A):c.4413-1G>A rs2131429839
NM_033305.3(VPS13A):c.4413-205_4579del
NM_033305.3(VPS13A):c.4715del (p.Asn1572fs) rs2131432786
NM_033305.3(VPS13A):c.4956+1G>A rs1085307823
NM_033305.3(VPS13A):c.4957-2A>G
NM_033305.3(VPS13A):c.5415+1G>C
NM_033305.3(VPS13A):c.5415+2T>A
NM_033305.3(VPS13A):c.555+2T>A
NM_033305.3(VPS13A):c.556-2A>G rs2131152462
NM_033305.3(VPS13A):c.5574+1G>A rs1829731758
NM_033305.3(VPS13A):c.5830+1G>A rs2131450525
NM_033305.3(VPS13A):c.5992-2A>T
NM_033305.3(VPS13A):c.6095+1G>A rs1564735244
NM_033305.3(VPS13A):c.6378+1G>A
NM_033305.3(VPS13A):c.6379-1G>C
NM_033305.3(VPS13A):c.6379-2A>G
NM_033305.3(VPS13A):c.6774+1G>A
NM_033305.3(VPS13A):c.6774+2T>C rs2131506184
NM_033305.3(VPS13A):c.6818C>A (p.Ser2273Ter) rs1830740171
NM_033305.3(VPS13A):c.696+2T>G rs2131153753
NM_033305.3(VPS13A):c.7027-1G>A
NM_033305.3(VPS13A):c.7156-1G>C
NM_033305.3(VPS13A):c.7156-2A>T rs1587628060
NM_033305.3(VPS13A):c.7253A>G (p.Asn2418Ser)
NM_033305.3(VPS13A):c.7290-1G>C rs2131540817
NM_033305.3(VPS13A):c.7419+1G>A rs763654348
NM_033305.3(VPS13A):c.754+1G>T
NM_033305.3(VPS13A):c.755-2A>G
NM_033305.3(VPS13A):c.7652+1G>A
NM_033305.3(VPS13A):c.7736_7739del (p.Arg2579fs) rs748828128
NM_033305.3(VPS13A):c.7806+1G>A
NM_033305.3(VPS13A):c.8029_8035+5del
NM_033305.3(VPS13A):c.8036-1G>A
NM_033305.3(VPS13A):c.8105+1G>A rs1293371764
NM_033305.3(VPS13A):c.8106-2A>G
NM_033305.3(VPS13A):c.8209G>T (p.Glu2737Ter) rs1057520049
NM_033305.3(VPS13A):c.8325+1G>T
NM_033305.3(VPS13A):c.8375C>G (p.Ser2792Ter) rs756865623
NM_033305.3(VPS13A):c.844_848del (p.Glu282fs)
NM_033305.3(VPS13A):c.8471_8471+3del
NM_033305.3(VPS13A):c.8554-1G>A rs1832615773
NM_033305.3(VPS13A):c.8554-1G>C rs1832615773
NM_033305.3(VPS13A):c.8554-2A>T rs1832615643
NM_033305.3(VPS13A):c.8668-1G>A rs2131587158
NM_033305.3(VPS13A):c.8668-1G>C
NM_033305.3(VPS13A):c.8744-2A>G
NM_033305.3(VPS13A):c.882+1G>A
NM_033305.3(VPS13A):c.882+2T>G
NM_033305.3(VPS13A):c.883-1G>A
NM_033305.3(VPS13A):c.883-1G>C
NM_033305.3(VPS13A):c.8907+2T>C
NM_033305.3(VPS13A):c.8954-2A>G
NM_033305.3(VPS13A):c.9078-1G>C rs2131614057
NM_033305.3(VPS13A):c.9189+1G>A
NM_033305.3(VPS13A):c.9243_9246del (p.Asn3082fs)
NM_033305.3(VPS13A):c.9263T>G (p.Met3088Arg)
NM_033305.3(VPS13A):c.9275+1G>A rs1239148255
NM_033305.3(VPS13A):c.9399+1G>A
NM_033305.3(VPS13A):c.9400-1G>T
NM_033305.3(VPS13A):c.9431_9432del (p.Glu3144fs) rs1085307750
NM_033305.3(VPS13A):c.989+2T>G rs2131177211
Single allele

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