ClinVar Miner

List of variants in gene CLN3 reported as likely benign for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_001042432.2(CLN3):c.678-336A>T rs142804308 0.01619
NM_001042432.2(CLN3):c.294+286A>G rs141294620 0.01319
NM_001042432.2(CLN3):c.-105T>A rs73533476 0.01287
NM_001042432.2(CLN3):c.295-127C>T rs28452476 0.01175
NM_001042432.2(CLN3):c.126-211A>T rs148584815 0.01173
NM_001042432.2(CLN3):c.125+49A>G rs113317066 0.01075
NM_001042432.2(CLN3):c.294+265_294+266insT rs1161119178 0.00984
NM_001042432.2(CLN3):c.*155A>C rs113112766 0.00886
NM_001042432.2(CLN3):c.294+251A>T rs551219084 0.00868
NM_001042432.2(CLN3):c.677+201G>A rs149693277 0.00861
NM_001042432.2(CLN3):c.*99C>T rs113845299 0.00853
NM_001042432.2(CLN3):c.790+168C>T rs112746997 0.00853
NM_001042432.2(CLN3):c.1057-302A>G rs141326377 0.00852
NM_001042432.2(CLN3):c.791-112G>T rs111351669 0.00849
NM_001042432.2(CLN3):c.771G>A (p.Glu257=) rs73533466 0.00402
NM_001042432.2(CLN3):c.-129G>C rs141305257 0.00315
NM_001042432.2(CLN3):c.838-35C>G rs146839771 0.00215
NM_001042432.2(CLN3):c.768C>T (p.Thr256=) rs145967477 0.00103
NM_001042432.1(CLN3):c.-264C>G rs187163584 0.00096
NM_001042432.2(CLN3):c.831G>A (p.Val277=) rs1142183 0.00045
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=) rs201206239 0.00040
NM_001042432.2(CLN3):c.45G>A (p.Glu15=) rs201824641 0.00022
NM_001042432.2(CLN3):c.677+8G>A rs368568189 0.00015
NM_001042432.2(CLN3):c.174C>T (p.Ala58=) rs138433617 0.00014
NM_001042432.2(CLN3):c.1022G>A (p.Arg341His) rs201271341 0.00011
NM_001042432.2(CLN3):c.759C>A (p.Leu253=) rs772274552 0.00009
NM_001042432.2(CLN3):c.126-8C>T rs770136863 0.00006
NM_001042432.2(CLN3):c.222T>C (p.His74=) rs201225986 0.00006
NM_001042432.2(CLN3):c.519T>C (p.Thr173=) rs983162408 0.00005
NM_001042432.2(CLN3):c.615C>T (p.Ala205=) rs145631076 0.00005
NM_001042432.2(CLN3):c.975G>A (p.Leu325=) rs150174473 0.00005
NM_001042432.2(CLN3):c.*29A>G rs778438984 0.00004
NM_001042432.2(CLN3):c.516C>T (p.Leu172=) rs148846795 0.00004
NM_001042432.2(CLN3):c.1167C>T (p.Tyr389=) rs371025471 0.00003
NM_001042432.2(CLN3):c.46+13G>A rs532377265 0.00003
NM_001042432.2(CLN3):c.69C>T (p.Pro23=) rs754235288 0.00003
NM_001042432.2(CLN3):c.-93T>G rs1050754043 0.00002
NM_001042432.2(CLN3):c.240G>A (p.Thr80=) rs373911322 0.00002
NM_001042432.2(CLN3):c.1200C>T (p.Thr400=) rs754270222 0.00001
NM_001042432.2(CLN3):c.47-11C>A rs561083322 0.00001
NM_001042432.2(CLN3):c.777G>A (p.Pro259=) rs751443804 0.00001
NC_000016.10:g.28492395_28492396dup rs764760757
NM_001042432.2(CLN3):c.1056+118del rs371817940
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_001042432.2(CLN3):c.537C>G (p.Ala179=) rs147667964
NM_001042432.2(CLN3):c.582G>T (p.Leu194=) rs386833734
NM_001042432.2(CLN3):c.768C>G (p.Thr256=) rs145967477
NM_001042432.2(CLN3):c.790+267dup rs755660742
NM_001042432.2(CLN3):c.790+288_790+292del rs755660742
NM_001042432.2(CLN3):c.907-19del rs749233275

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