List of variants in gene VPS13A reported as uncertain significance by Athena Diagnostics Inc

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: 26

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HGVS	dbSNP	gnomAD frequency
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp)	rs41307461	0.00255
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn)	rs117320408	0.00061
NM_033305.3(VPS13A):c.4390C>A (p.His1464Asn)	rs148891181	0.00026
NM_033305.3(VPS13A):c.8225A>G (p.His2742Arg)	rs145686832	0.00026
NM_033305.3(VPS13A):c.7047G>A (p.Glu2349=)	rs552113529	0.00015
NM_033305.3(VPS13A):c.3733A>G (p.Met1245Val)	rs145398548	0.00013
NM_033305.3(VPS13A):c.787G>A (p.Val263Met)	rs372957084	0.00013
NM_033305.3(VPS13A):c.1660C>T (p.Leu554Phe)	rs147115148	0.00011
NM_033305.3(VPS13A):c.1150G>A (p.Val384Met)	rs139444683	0.00010
NM_033305.3(VPS13A):c.398C>T (p.Pro133Leu)	rs202090510	0.00009
NM_033305.3(VPS13A):c.4826C>T (p.Pro1609Leu)	rs755454094	0.00006
NM_033305.3(VPS13A):c.7658A>T (p.Asp2553Val)	rs758912053	0.00006
NM_033305.3(VPS13A):c.7340A>G (p.Tyr2447Cys)	rs574650880	0.00003
NM_033305.3(VPS13A):c.8830A>G (p.Lys2944Glu)	rs776346441	0.00002
NM_033305.3(VPS13A):c.610C>T (p.Arg204Cys)	rs752509925	0.00001
NM_033305.3(VPS13A):c.6785T>C (p.Met2262Thr)	rs763311249	0.00001
NM_033305.3(VPS13A):c.8233A>G (p.Ile2745Val)	rs780530847	0.00001
NM_033305.3(VPS13A):c.1330G>C (p.Glu444Gln)
NM_033305.3(VPS13A):c.1498G>A (p.Val500Ile)	rs776549674
NM_033305.3(VPS13A):c.2288A>G (p.Lys763Arg)	rs749375820
NM_033305.3(VPS13A):c.3243T>C (p.Asp1081=)
NM_033305.3(VPS13A):c.3637A>G (p.Ile1213Val)	rs1172751806
NM_033305.3(VPS13A):c.4165C>G (p.Leu1389Val)
NM_033305.3(VPS13A):c.7207A>G (p.Thr2403Ala)
NM_033305.3(VPS13A):c.9311A>G (p.Gln3104Arg)	rs1554681451
NM_033305.3(VPS13A):c.9475-3_9500dup	rs2131675925

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