ClinVar Miner

List of variants in gene CLN3 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 74
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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.-129G>C rs141305257 0.00315
NM_001042432.2(CLN3):c.838-35C>G rs146839771 0.00215
NM_001042432.1(CLN3):c.-264C>G rs187163584 0.00096
NM_001042432.2(CLN3):c.-76-14G>A rs368542813 0.00044
NM_001042432.2(CLN3):c.1022G>A (p.Arg341His) rs201271341 0.00011
NM_001042432.2(CLN3):c.-41C>A rs370217726 0.00010
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.615C>T (p.Ala205=) rs145631076 0.00005
NM_001042432.2(CLN3):c.125+3G>A rs775577824 0.00004
NM_001042432.2(CLN3):c.304C>T (p.Leu102=) rs1167562278 0.00004
NM_001042432.2(CLN3):c.-33C>A rs368494637 0.00003
NM_001042432.2(CLN3):c.-90T>C rs1362294732 0.00003
NM_001042432.2(CLN3):c.1167C>T (p.Tyr389=) rs371025471 0.00003
NM_001042432.2(CLN3):c.180C>T (p.His60=) rs150120797 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.1056+8A>C rs991918245 0.00002
NM_001042432.2(CLN3):c.1135C>T (p.Leu379=) rs890026046 0.00002
NM_001042432.2(CLN3):c.243G>A (p.Pro81=) rs779165392 0.00002
NM_001042432.2(CLN3):c.447G>T (p.Gly149=) rs779918787 0.00002
NM_001042432.2(CLN3):c.1198-14C>G rs757911107 0.00001
NM_001042432.2(CLN3):c.1200C>T (p.Thr400=) rs754270222 0.00001
NM_001042432.2(CLN3):c.207G>A (p.Ser69=) rs551476103 0.00001
NM_001042432.2(CLN3):c.309G>A (p.Ala103=) rs774996613 0.00001
NM_001042432.2(CLN3):c.33T>C (p.Phe11=) rs1555469504 0.00001
NM_001042432.2(CLN3):c.47-11C>A rs561083322 0.00001
NM_001042432.2(CLN3):c.533+18G>A rs376160790 0.00001
NM_001042432.2(CLN3):c.677+19G>A rs367594758 0.00001
NM_001042432.2(CLN3):c.777G>A (p.Pro259=) rs751443804 0.00001
NM_001042432.2(CLN3):c.837+12G>A rs763812265 0.00001
NM_001042432.2(CLN3):c.882C>T (p.Ala294=) rs766972077 0.00001
NC_000016.10:g.28492395_28492396dup rs764760757
NM_001042432.2(CLN3):c.-17G>A rs770428655
NM_001042432.2(CLN3):c.-77+12A>C rs1555469548
NM_001042432.2(CLN3):c.-91C>G rs946396606
NM_001042432.2(CLN3):c.1056+118del rs371817940
NM_001042432.2(CLN3):c.1057-11C>T rs189498501
NM_001042432.2(CLN3):c.1150C>T (p.Leu384=) rs1057521416
NM_001042432.2(CLN3):c.1197+13C>A rs370103287
NM_001042432.2(CLN3):c.1198-17G>A rs749612121
NM_001042432.2(CLN3):c.1213C>A (p.Arg405=) rs139842473
NM_001042432.2(CLN3):c.222+9CT[2] rs1064794997
NM_001042432.2(CLN3):c.288T>A (p.Ser96=) rs1555469051
NM_001042432.2(CLN3):c.295-13T>A rs796052333
NM_001042432.2(CLN3):c.295-17C>G rs375311626
NM_001042432.2(CLN3):c.375-19_375-4dup rs755313503
NM_001042432.2(CLN3):c.47-4C>T rs1555469480
NM_001042432.2(CLN3):c.534-18C>T rs1310342698
NM_001042432.2(CLN3):c.537C>G (p.Ala179=) rs147667964
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.791-6C>T rs1057523421
NM_001042432.2(CLN3):c.861C>T (p.Pro287=) rs1057524528
NM_001042432.2(CLN3):c.870A>G (p.Val290=) rs1555468214
NM_001042432.2(CLN3):c.907-19del rs749233275
NM_001042432.2(CLN3):c.963-16C>A rs200023908

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