ClinVar Miner

List of variants studied for combined oxidative phosphorylation defect type 20

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_020442.6(VARS2):c.3033C>T (p.Asp1011=) rs1043483 0.66272
NM_020442.6(VARS2):c.-28+82T>C rs1264306 0.52561
NM_020442.6(VARS2):c.2186-10T>C rs753725 0.50613
NM_020442.6(VARS2):c.1345T>C (p.Trp449Arg) rs2249464 0.50569
NM_020442.6(VARS2):c.2038G>T (p.Val680Leu) rs2074506 0.27888
NM_020442.6(VARS2):c.2750G>A (p.Arg917Gln) rs9394021 0.22711
NM_020442.6(VARS2):c.1272C>T (p.Ser424=) rs2285319 0.22709
NM_020442.6(VARS2):c.2551C>T (p.Arg851Cys) rs138855624 0.00129
NM_020442.6(VARS2):c.2589G>C (p.Glu863Asp) rs143473050 0.00086
NM_020442.6(VARS2):c.1691C>T (p.Ala564Val) rs143408155 0.00041
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr) rs202201763 0.00039
NM_020442.6(VARS2):c.2624C>T (p.Pro875Leu) rs376070793 0.00028
NM_020442.6(VARS2):c.1954C>T (p.Arg652Trp) rs148448090 0.00015
NM_020442.6(VARS2):c.2467-2A>G rs200075594 0.00011
NM_020442.6(VARS2):c.511C>T (p.Arg171Trp) rs139515727 0.00011
NM_020442.6(VARS2):c.736T>C (p.Cys246Arg) rs140184279 0.00011
NM_020442.6(VARS2):c.3005G>A (p.Arg1002Gln) rs767441762 0.00010
NM_020442.6(VARS2):c.1850C>T (p.Thr617Met) rs367837827 0.00008
NM_020442.6(VARS2):c.3092T>G (p.Leu1031Arg) rs201946203 0.00006
NM_020442.6(VARS2):c.1456G>T (p.Glu486Ter) rs143821815 0.00005
NM_020442.6(VARS2):c.142C>G (p.Gln48Glu) rs750590170 0.00004
NM_020442.6(VARS2):c.2038-1G>A rs769768815 0.00004
NM_020442.6(VARS2):c.2501G>A (p.Arg834His) rs747564856 0.00004
NM_020442.6(VARS2):c.104A>G (p.His35Arg) rs199534441 0.00002
NM_020442.6(VARS2):c.1834_1835del (p.Leu612fs) rs777028011 0.00002
NM_020442.6(VARS2):c.275A>G (p.Glu92Gly) rs767695626 0.00002
NM_020442.6(VARS2):c.1010C>T (p.Thr337Ile) rs587777585 0.00001
NM_020442.6(VARS2):c.1060G>A (p.Asp354Asn) rs753490759 0.00001
NM_020442.6(VARS2):c.1400G>A (p.Arg467His) rs775439829 0.00001
NM_020442.6(VARS2):c.2684G>A (p.Arg895His) rs570231965 0.00001
NM_020442.6(VARS2):c.503G>A (p.Arg168His) rs776585917 0.00001
NM_020442.6(VARS2):c.631C>T (p.Arg211Trp) rs544609783 0.00001
NM_020442.6(VARS2):c.-18_-12del rs1794042527
NM_020442.6(VARS2):c.1045G>A (p.Ala349Thr) rs587777583
NM_020442.6(VARS2):c.1066C>T (p.Arg356Ter)
NM_020442.6(VARS2):c.1166-15G>T rs2150559040
NM_020442.6(VARS2):c.1258G>A (p.Gly420Arg)
NM_020442.6(VARS2):c.1346G>A (p.Trp449Ter)
NM_020442.6(VARS2):c.1349del (p.Gly450fs)
NM_020442.6(VARS2):c.1400G>C (p.Arg467Pro) rs775439829
NM_020442.6(VARS2):c.1463_1465del (p.Gly488del) rs1554268077
NM_020442.6(VARS2):c.1480-2A>G
NM_020442.6(VARS2):c.1583G>A (p.Trp528Ter)
NM_020442.6(VARS2):c.1625A>G (p.His542Arg) rs2150561733
NM_020442.6(VARS2):c.1637A>T (p.Glu546Val) rs761726567
NM_020442.6(VARS2):c.1787C>A (p.Ala596Asp) rs587777584
NM_020442.6(VARS2):c.2149G>A (p.Ala717Thr) rs772718755
NM_020442.6(VARS2):c.2257C>T (p.Leu753Phe)
NM_020442.6(VARS2):c.2280dup (p.Gly761fs)
NM_020442.6(VARS2):c.2692G>T (p.Glu898Ter) rs2150570235
NM_020442.6(VARS2):c.2758T>C (p.Tyr920His) rs1794768738
NM_020442.6(VARS2):c.2869_2876dup (p.Leu961fs) rs1794789052
NM_020442.6(VARS2):c.3020A>G (p.Gln1007Arg) rs773482888
NM_020442.6(VARS2):c.3182C>T (p.Pro1061Leu)
NM_020442.6(VARS2):c.420del (p.Met141fs)
NM_020442.6(VARS2):c.502C>T (p.Arg168Cys)
NM_020442.6(VARS2):c.574-42_574-35del rs57637932
NM_020442.6(VARS2):c.667G>T (p.Glu223Ter)
NM_020442.6(VARS2):c.842G>A (p.Cys281Tyr)
NM_020442.6(VARS2):c.986-14A>G rs1297230026

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