List of variants in gene VPS13A reported as likely pathogenic for Huntington disease and related disorders

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_033305.3(VPS13A):c.3889C>T (p.Arg1297Ter)	rs200280742	0.00004
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.9109C>T (p.Arg3037Ter)	rs199807227	0.00002
NM_033305.3(VPS13A):c.7867C>T (p.Arg2623Ter)	rs1055609567	0.00001
NM_033305.3(VPS13A):c.8325+1G>A	rs1459022689	0.00001
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.2203dup (p.Val735fs)
NM_033305.3(VPS13A):c.2252_2253insGA (p.Lys752fs)	rs1825188183
NM_033305.3(VPS13A):c.2500del (p.Val834fs)	rs2131325474
NM_033305.3(VPS13A):c.2513-2A>T	rs1037030970
NM_033305.3(VPS13A):c.3114del (p.Lys1038fs)
NM_033305.3(VPS13A):c.3743_3746dup (p.Ser1249fs)
NM_033305.3(VPS13A):c.4246dup (p.Ser1416fs)	rs2131427489
NM_033305.3(VPS13A):c.4356del (p.Ser1452_Leu1453insTer)
NM_033305.3(VPS13A):c.4446dup (p.Asp1483fs)	rs1829322194
NM_033305.3(VPS13A):c.4715del (p.Asn1572fs)	rs2131432786
NM_033305.3(VPS13A):c.5574+1G>A	rs1829731758
NM_033305.3(VPS13A):c.6379-1G>C
NM_033305.3(VPS13A):c.6818C>A (p.Ser2273Ter)	rs1830740171
NM_033305.3(VPS13A):c.7027-1G>A
NM_033305.3(VPS13A):c.7062dup (p.Leu2355fs)
NM_033305.3(VPS13A):c.8041A>T (p.Lys2681Ter)
NM_033305.3(VPS13A):c.8375C>G (p.Ser2792Ter)	rs756865623
NM_033305.3(VPS13A):c.844_848del (p.Glu282fs)
NM_033305.3(VPS13A):c.8668-1G>A	rs2131587158
NM_033305.3(VPS13A):c.8744-2A>G
NM_033305.3(VPS13A):c.9243_9246del (p.Asn3082fs)
NM_033305.3(VPS13A):c.9263T>G (p.Met3088Arg)
NM_033305.3(VPS13A):c.9431_9432del (p.Glu3144fs)	rs1085307750
Single allele

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