ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive early-onset Parkinson disease 6 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_032409.3(PINK1):c.*655T>C rs141140099 0.00341
NM_032409.3(PINK1):c.*807T>C rs78349864 0.00250
NM_032409.3(PINK1):c.165G>A (p.Glu55=) rs537679886 0.00162
NM_032409.3(PINK1):c.1231G>A (p.Gly411Ser) rs45478900 0.00146
NM_032409.3(PINK1):c.67G>A (p.Gly23Ser) rs551542832 0.00125
NM_032409.3(PINK1):c.952A>T (p.Met318Leu) rs139226733 0.00093
NM_032409.3(PINK1):c.936G>A (p.Arg312=) rs56200357 0.00091
NM_032409.3(PINK1):c.1015G>A (p.Ala339Thr) rs55831733 0.00074
NM_032409.3(PINK1):c.218C>T (p.Ser73Leu) rs202048763 0.00070
NM_032409.3(PINK1):c.1075G>A (p.Ala359Thr) rs76753586 0.00066
NM_032409.3(PINK1):c.*586T>C rs184877436 0.00033
NM_032409.3(PINK1):c.1728A>G (p.Ser576=) rs149994404 0.00033
NM_032409.3(PINK1):c.*702G>A rs922209796 0.00026
NM_032409.3(PINK1):c.858G>A (p.Pro286=) rs148144773 0.00019
NM_032409.3(PINK1):c.695C>T (p.Ala232Val) rs144071530 0.00016
NM_032409.3(PINK1):c.1251+10G>A rs192131551 0.00012
NM_032409.3(PINK1):c.*121G>A rs570308715 0.00011
NM_032409.3(PINK1):c.*352G>A rs1020810162 0.00011
NM_032409.3(PINK1):c.*18G>A rs369117599 0.00010
NM_032409.3(PINK1):c.835C>T (p.Arg279Cys) rs61735932 0.00008
NM_032409.3(PINK1):c.*571C>T rs1003457823 0.00007
NM_032409.3(PINK1):c.565G>A (p.Gly189Arg) rs757581951 0.00007
NM_032409.3(PINK1):c.*534A>G rs553977557 0.00006
NM_032409.3(PINK1):c.1096G>A (p.Asp366Asn) rs200729715 0.00006
NM_032409.3(PINK1):c.267C>T (p.Ala89=) rs770933972 0.00006
NM_032409.3(PINK1):c.1065A>G (p.Gln355=) rs370470902 0.00005
NM_032409.3(PINK1):c.770C>T (p.Thr257Ile) rs370906995 0.00005
NM_032409.3(PINK1):c.802C>G (p.Leu268Val) rs372280083 0.00005
NM_032409.3(PINK1):c.1003A>G (p.Ser335Gly) rs144330127 0.00004
NM_032409.3(PINK1):c.620G>A (p.Arg207Gln) rs759468742 0.00004
NM_032409.3(PINK1):c.960-11C>T rs371943401 0.00003
NM_032409.3(PINK1):c.414G>A (p.Pro138=) rs773637957 0.00002
NM_032409.3(PINK1):c.434C>T (p.Thr145Met) rs45604240 0.00002
NM_032409.3(PINK1):c.665G>A (p.Trp222Ter) rs777160388 0.00002
NM_032409.3(PINK1):c.*340C>T rs1469982205 0.00001
NM_032409.3(PINK1):c.1095C>T (p.Ser365=) rs559921009 0.00001
NM_032409.3(PINK1):c.1194G>A (p.Leu398=) rs1214490830 0.00001
NM_032409.3(PINK1):c.1196C>T (p.Pro399Leu) rs119451946 0.00001
NM_032409.3(PINK1):c.1251+5G>A rs756873744 0.00001
NM_032409.3(PINK1):c.1481C>T (p.Ala494Val) rs542258150 0.00001
NM_032409.3(PINK1):c.1578G>C (p.Lys526Asn) rs886045848 0.00001
NM_032409.3(PINK1):c.1698G>A (p.Thr566=) rs777232150 0.00001
NM_032409.3(PINK1):c.1729T>C (p.Trp577Arg) rs747133533 0.00001
NM_032409.3(PINK1):c.322del (p.Leu108fs) rs1557559393 0.00001
NM_032409.3(PINK1):c.826C>T (p.Arg276Trp) rs778009684 0.00001
NM_032409.3(PINK1):c.887C>T (p.Pro296Leu) rs779060308 0.00001
NM_032409.3(PINK1):c.*113G>A rs926301568
NM_032409.3(PINK1):c.*263C>A rs1339739201
NM_032409.3(PINK1):c.*510G>A rs886045850
NM_032409.3(PINK1):c.*519G>A rs1054458936
NM_032409.3(PINK1):c.*542G>A rs1161485879
NM_032409.3(PINK1):c.*579C>T rs2053270701
NM_032409.3(PINK1):c.*613A>G rs886045852
NM_032409.3(PINK1):c.*64G>A rs1171595625
NM_032409.3(PINK1):c.*817C>A rs2053279238
NM_032409.3(PINK1):c.1212C>G (p.Tyr404Ter) rs747239996
NM_032409.3(PINK1):c.1719C>G (p.Leu573=) rs201936304
NM_032409.3(PINK1):c.279G>C (p.Ala93=) rs1224246757
NM_032409.3(PINK1):c.813C>T (p.His271=) rs28940284
NM_032409.3(PINK1):c.827G>A (p.Arg276Gln) rs548506734
NM_032409.3(PINK1):c.88G>C (p.Gly30Arg) rs569753606
NM_032409.3(PINK1):c.960-11C>G rs371943401

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