ClinVar Miner

List of variants reported as likely benign for Huntington disease and related disorders by Natera, Inc.

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033305.3(VPS13A):c.5184T>C (p.Ser1728=) rs73467954 0.00400
NM_033305.3(VPS13A):c.9078-7C>T rs186819389 0.00183
NM_033305.3(VPS13A):c.5281C>T (p.Leu1761=) rs73467955 0.00070
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn) rs117320408 0.00061
NM_033305.3(VPS13A):c.9274C>T (p.Arg3092Cys) rs146574121 0.00057
NM_033305.3(VPS13A):c.7920A>G (p.Gln2640=) rs200387635 0.00046
NM_033305.3(VPS13A):c.8668-10G>C rs371453974 0.00039
NM_033305.3(VPS13A):c.4590T>G (p.Ala1530=) rs141940484 0.00036
NM_033305.3(VPS13A):c.3508-8T>C rs376751858 0.00031
NM_033305.3(VPS13A):c.1528C>T (p.Leu510=) rs147954757 0.00028
NM_033305.3(VPS13A):c.516G>A (p.Pro172=) rs141109675 0.00026
NM_033305.3(VPS13A):c.6984T>C (p.Ala2328=) rs144477984 0.00024
NM_033305.3(VPS13A):c.5594C>T (p.Thr1865Ile) rs143449578 0.00023
NM_033305.3(VPS13A):c.621C>T (p.Ile207=) rs146941948 0.00021
NM_033305.3(VPS13A):c.6558T>C (p.Val2186=) rs112596608 0.00018
NM_033305.3(VPS13A):c.7273G>A (p.Val2425Ile) rs189718498 0.00014
NM_033305.3(VPS13A):c.126A>G (p.Gln42=) rs140518771 0.00013
NM_033305.3(VPS13A):c.2496A>T (p.Pro832=) rs148754839 0.00013
NM_033305.3(VPS13A):c.5047A>G (p.Thr1683Ala) rs371138709 0.00013
NM_033305.3(VPS13A):c.846G>A (p.Glu282=) rs376954549 0.00011
NM_033305.3(VPS13A):c.2889G>A (p.Thr963=) rs776098236 0.00010
NM_033305.3(VPS13A):c.2499T>C (p.Ser833=) rs372027471 0.00009
NM_033305.3(VPS13A):c.2601A>G (p.Arg867=) rs145624888 0.00008
NM_033305.3(VPS13A):c.5786A>G (p.Asn1929Ser) rs748876393 0.00008
NM_033305.3(VPS13A):c.1269T>C (p.Asp423=) rs151069489 0.00006
NM_033305.3(VPS13A):c.9119G>A (p.Arg3040Gln) rs148458576 0.00006
NM_033305.3(VPS13A):c.2160C>T (p.Tyr720=) rs748268509 0.00005
NM_033305.3(VPS13A):c.2964+5G>A rs139516538 0.00005
NM_033305.3(VPS13A):c.5970C>G (p.Val1990=) rs191925614 0.00005
NM_033305.3(VPS13A):c.723T>C (p.Asn241=) rs749945516 0.00005
NM_033305.3(VPS13A):c.8953+7A>G rs375621860 0.00005
NM_033305.3(VPS13A):c.9105T>C (p.Ser3035=) rs149474259 0.00005
NM_033305.3(VPS13A):c.4626A>G (p.Glu1542=) rs763602189 0.00004
NM_033305.3(VPS13A):c.6234C>T (p.Leu2078=) rs571822890 0.00004
NM_033305.3(VPS13A):c.5725T>C (p.Leu1909=) rs139817600 0.00003
NM_033305.3(VPS13A):c.5721T>C (p.Tyr1907=) rs773977853 0.00002
NM_033305.3(VPS13A):c.7078G>A (p.Glu2360Lys) rs370401336 0.00002
NM_033305.3(VPS13A):c.8211+5G>A rs183316143 0.00002
NM_033305.3(VPS13A):c.900G>A (p.Glu300=) rs750958608 0.00002
NM_033305.3(VPS13A):c.9492A>G (p.Leu3164=) rs538279569 0.00002
NM_033305.3(VPS13A):c.1165T>C (p.Leu389=) rs547171069 0.00001
NM_033305.3(VPS13A):c.1380T>C (p.Pro460=) rs750046579 0.00001
NM_033305.3(VPS13A):c.1734T>C (p.Val578=) rs201027855 0.00001
NM_033305.3(VPS13A):c.2304A>G (p.Gly768=) rs764549391 0.00001
NM_033305.3(VPS13A):c.2766C>T (p.Tyr922=) rs763126524 0.00001
NM_033305.3(VPS13A):c.284-4A>G rs534441636 0.00001
NM_033305.3(VPS13A):c.6102C>T (p.Phe2034=) rs569599272 0.00001
NM_033305.3(VPS13A):c.7821T>C (p.Pro2607=) rs774617189 0.00001
NM_033305.3(VPS13A):c.7851G>A (p.Pro2617=) rs753711996 0.00001
NM_033305.3(VPS13A):c.9077+8C>T rs1325690140 0.00001
NM_033305.3(VPS13A):c.927A>G (p.Ala309=) rs749004984 0.00001
NM_033305.3(VPS13A):c.1146T>A (p.Leu382=) rs556865512
NM_033305.3(VPS13A):c.1581A>G (p.Gly527=) rs757215593
NM_033305.3(VPS13A):c.3714A>C (p.Thr1238=) rs769379977
NM_033305.3(VPS13A):c.4386A>G (p.Arg1462=) rs1829282039
NM_033305.3(VPS13A):c.7044T>A (p.Pro2348=) rs143259810
NM_033305.3(VPS13A):c.7420-4C>T rs764829121

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