ClinVar Miner

List of variants in gene CLN6 reported as likely benign by Invitae

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Gene type:
ClinVar version:
Total variants: 119
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HGVS dbSNP
NM_017882.3(CLN6):c.114C>G (p.Ala38=)
NM_017882.3(CLN6):c.114C>T (p.Ala38=)
NM_017882.3(CLN6):c.123T>A (p.Ala41=)
NM_017882.3(CLN6):c.135C>T (p.Leu45=) rs374577694
NM_017882.3(CLN6):c.138C>T (p.Asp46=) rs1595821372
NM_017882.3(CLN6):c.13C>A (p.Arg5=) rs886285802
NM_017882.3(CLN6):c.157C>T (p.Leu53=)
NM_017882.3(CLN6):c.159G>A (p.Leu53=)
NM_017882.3(CLN6):c.15G>A (p.Arg5=)
NM_017882.3(CLN6):c.16A>C (p.Arg6=)
NM_017882.3(CLN6):c.180T>C (p.Phe60=) rs1183583039
NM_017882.3(CLN6):c.195C>T (p.Ala65=) rs1472031434
NM_017882.3(CLN6):c.199-4G>A
NM_017882.3(CLN6):c.199-5C>T rs371705916
NM_017882.3(CLN6):c.204A>G (p.Val68=) rs774960579
NM_017882.3(CLN6):c.213C>G (p.Leu71=) rs146980624
NM_017882.3(CLN6):c.213C>T (p.Leu71=) rs146980624
NM_017882.3(CLN6):c.21G>A (p.Arg7=)
NM_017882.3(CLN6):c.225A>G (p.Pro75=)
NM_017882.3(CLN6):c.228C>T (p.Leu76=)
NM_017882.3(CLN6):c.240T>C (p.Ser80=) rs1395492951
NM_017882.3(CLN6):c.252C>T (p.Tyr84=)
NM_017882.3(CLN6):c.279G>A (p.Thr93=) rs746613593
NM_017882.3(CLN6):c.27C>T (p.His9=)
NM_017882.3(CLN6):c.282C>A (p.Pro94=) rs139261571
NM_017882.3(CLN6):c.288C>G (p.Leu96=)
NM_017882.3(CLN6):c.28C>T (p.Leu10=)
NM_017882.3(CLN6):c.294C>G (p.Leu98=)
NM_017882.3(CLN6):c.297+9C>T
NM_017882.3(CLN6):c.298-8A>T
NM_017882.3(CLN6):c.303C>T (p.Ile101=) rs1369226101
NM_017882.3(CLN6):c.321C>T (p.Thr107=)
NM_017882.3(CLN6):c.324G>T (p.Leu108=)
NM_017882.3(CLN6):c.33A>G (p.Gly11=)
NM_017882.3(CLN6):c.342C>T (p.Tyr114=)
NM_017882.3(CLN6):c.345G>A (p.Val115=)
NM_017882.3(CLN6):c.348C>T (p.Ser116=)
NM_017882.3(CLN6):c.354C>T (p.Ile118=) rs1555438691
NM_017882.3(CLN6):c.36G>A (p.Ala12=) rs1048000119
NM_017882.3(CLN6):c.375C>T (p.Ser125=)
NM_017882.3(CLN6):c.396T>C (p.Ser132=) rs949403836
NM_017882.3(CLN6):c.414C>T (p.Leu138=)
NM_017882.3(CLN6):c.423C>T (p.Gly141=)
NM_017882.3(CLN6):c.426C>T (p.Tyr142=)
NM_017882.3(CLN6):c.42C>A (p.Gly14=) rs373776911
NM_017882.3(CLN6):c.441T>G (p.Ser147=) rs1595818241
NM_017882.3(CLN6):c.462C>T (p.Ile154=)
NM_017882.3(CLN6):c.477G>A (p.Pro159=) rs370811678
NM_017882.3(CLN6):c.483G>T (p.Thr161=)
NM_017882.3(CLN6):c.486+7C>G
NM_017882.3(CLN6):c.486+8C>A rs149692285
NM_017882.3(CLN6):c.487-10C>T
NM_017882.3(CLN6):c.487-7C>T
NM_017882.3(CLN6):c.489C>T (p.Ile163=) rs748682605
NM_017882.3(CLN6):c.502C>T (p.Leu168=)
NM_017882.3(CLN6):c.507C>T (p.Leu169=) rs1273285939
NM_017882.3(CLN6):c.516T>C (p.Tyr172=)
NM_017882.3(CLN6):c.519T>C (p.Asp173=)
NM_017882.3(CLN6):c.522G>A (p.Glu174=) rs753538013
NM_017882.3(CLN6):c.526C>T (p.Leu176=)
NM_017882.3(CLN6):c.528G>A (p.Leu176=)
NM_017882.3(CLN6):c.534C>T (p.His178=)
NM_017882.3(CLN6):c.543-10C>T
NM_017882.3(CLN6):c.543-9C>T rs374653673
NM_017882.3(CLN6):c.549C>T (p.Ile183=)
NM_017882.3(CLN6):c.54G>A (p.Ala18=)
NM_017882.3(CLN6):c.552C>T (p.Pro184=) rs1595817219
NM_017882.3(CLN6):c.555C>T (p.Phe185=) rs1595817218
NM_017882.3(CLN6):c.558C>T (p.Phe186=)
NM_017882.3(CLN6):c.564C>A (p.Ile188=) rs371326037
NM_017882.3(CLN6):c.564C>T (p.Ile188=) rs371326037
NM_017882.3(CLN6):c.567C>T (p.Leu189=) rs762214934
NM_017882.3(CLN6):c.582C>T (p.Ser194=)
NM_017882.3(CLN6):c.585C>T (p.Gly195=) rs144507672
NM_017882.3(CLN6):c.58C>T (p.Leu20=) rs886042533
NM_017882.3(CLN6):c.597C>G (p.Ala199=)
NM_017882.3(CLN6):c.609G>A (p.Glu203=)
NM_017882.3(CLN6):c.60G>A (p.Leu20=)
NM_017882.3(CLN6):c.636C>T (p.Leu212=) rs758612277
NM_017882.3(CLN6):c.637C>T (p.Leu213=)
NM_017882.3(CLN6):c.63C>T (p.Gly21=) rs796052348
NM_017882.3(CLN6):c.657G>A (p.Leu219=)
NM_017882.3(CLN6):c.663C>T (p.Tyr221=)
NM_017882.3(CLN6):c.665+10C>T
NM_017882.3(CLN6):c.666-14C>T
NM_017882.3(CLN6):c.66C>T (p.Ala22=) rs796052349
NM_017882.3(CLN6):c.678C>T (p.Thr226=) rs374744816
NM_017882.3(CLN6):c.681G>A (p.Glu227=)
NM_017882.3(CLN6):c.684C>A (p.Gly228=) rs1209133488
NM_017882.3(CLN6):c.711C>T (p.Thr237=)
NM_017882.3(CLN6):c.717C>T (p.Phe239=) rs745850620
NM_017882.3(CLN6):c.724C>T (p.Leu242=)
NM_017882.3(CLN6):c.72C>T (p.Phe24=)
NM_017882.3(CLN6):c.732C>T (p.Leu244=)
NM_017882.3(CLN6):c.741C>T (p.His247=) rs140653271
NM_017882.3(CLN6):c.747G>A (p.Lys249=)
NM_017882.3(CLN6):c.755G>A (p.Arg252His) rs374681194
NM_017882.3(CLN6):c.759C>G (p.Leu253=) rs1567094628
NM_017882.3(CLN6):c.75G>T (p.Leu25=)
NM_017882.3(CLN6):c.763C>T (p.Leu255=) rs1195840845
NM_017882.3(CLN6):c.774C>T (p.Asn258=) rs1555438231
NM_017882.3(CLN6):c.798C>T (p.Phe266=) rs140319056
NM_017882.3(CLN6):c.801A>G (p.Ala267=) rs901756486
NM_017882.3(CLN6):c.810C>G (p.Leu270=) rs183399390
NM_017882.3(CLN6):c.822G>A (p.Ala274=) rs151186473
NM_017882.3(CLN6):c.83+7G>A rs1595826955
NM_017882.3(CLN6):c.831C>T (p.Val277=) rs753344266
NM_017882.3(CLN6):c.84-8C>T rs756782429
NM_017882.3(CLN6):c.84-9C>T rs778471506
NM_017882.3(CLN6):c.858C>T (p.Leu286=) rs1043430340
NM_017882.3(CLN6):c.873G>A (p.Pro291=) rs567275786
NM_017882.3(CLN6):c.876T>C (p.Gly292=) rs916275768
NM_017882.3(CLN6):c.885C>T (p.Tyr295=) rs374990526
NM_017882.3(CLN6):c.894G>A (p.Glu298=)
NM_017882.3(CLN6):c.912C>T (p.Thr304=) rs201330867
NM_017882.3(CLN6):c.918C>T (p.His306=) rs1347398610
NM_017882.3(CLN6):c.924C>T (p.Ser308=) rs774237925
NM_017882.3(CLN6):c.93T>C (p.Ser31=) rs376510900
NM_017882.3(CLN6):c.99C>T (p.Ser33=) rs752449801

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