ClinVar Miner

List of variants in gene CLN3 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_001042432.2(CLN3):c.294+236A>G rs149282 0.98043
NM_001042432.2(CLN3):c.294+265A>T rs149281 0.93847
NM_001042432.2(CLN3):c.1057-148A>G rs34839 0.48008
NM_001042432.2(CLN3):c.295-229T>C rs34835 0.36719
NM_001042432.2(CLN3):c.1057-144C>T rs28374519 0.33844
NM_001042432.2(CLN3):c.678-313G>A rs151182 0.31813
NM_001042432.2(CLN3):c.294+253T>A rs149301 0.29597
NM_001042432.2(CLN3):c.1211A>G (p.His404Arg) rs77595156 0.11421
NM_001042432.2(CLN3):c.-77+85G>A rs28612835 0.04930
NM_001042432.2(CLN3):c.46+63A>G rs28545628 0.04650
NM_001042432.2(CLN3):c.1056+140G>A rs143833407 0.02751
NC_000016.10:g.28492377T>C rs867543183 0.02499
NM_001042432.2(CLN3):c.295-59G>A rs79077329 0.02245
NM_001042432.2(CLN3):c.47-60C>G rs111404007 0.01636
NM_001042432.2(CLN3):c.677+147C>G rs56695328 0.01496
NM_001042432.2(CLN3):c.1057-55C>T rs74016815 0.01495
NM_001042432.2(CLN3):c.771G>A (p.Glu257=) rs73533466 0.00402
NM_001042432.2(CLN3):c.313A>G (p.Ile105Val) rs11552531 0.00312
NM_001042432.2(CLN3):c.318C>T (p.Leu106=) rs148248159 0.00115
NM_001042432.2(CLN3):c.768C>T (p.Thr256=) rs145967477 0.00103
NM_001042432.2(CLN3):c.963-16C>G rs200023908 0.00051
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.678-18C>A rs370158185 0.00031
NM_001042432.2(CLN3):c.790+16C>A rs200731769 0.00023
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.1209G>A (p.Glu403=) rs377369610 0.00008
NM_001042432.2(CLN3):c.1197+13C>T rs370103287 0.00006
NM_001042432.2(CLN3):c.975G>A (p.Leu325=) rs150174473 0.00005
NM_001042432.2(CLN3):c.264A>C (p.Ser88=) rs751321507 0.00004
NM_001042432.2(CLN3):c.295-17C>T rs375311626 0.00004
NM_001042432.2(CLN3):c.516C>T (p.Leu172=) rs148846795 0.00004
NM_001042432.2(CLN3):c.240G>A (p.Thr80=) rs373911322 0.00002
NM_001042432.2(CLN3):c.-76-4G>T rs796052334 0.00001
NC_000016.10:g.28492396del rs764760757
NC_000016.10:g.28492396dup rs764760757
NM_001042432.1(CLN3):c.-376_-371delTGAAGC rs72224211
NM_001042432.2(CLN3):c.1056+102dup rs371817940
NM_001042432.2(CLN3):c.1057-22dup rs148146139
NM_001042432.2(CLN3):c.1197+8T>C rs587780895
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_001042432.2(CLN3):c.270T>C (p.Phe90=) rs145520962
NM_001042432.2(CLN3):c.294+266_294+267del rs367752281
NM_001042432.2(CLN3):c.414C>T (p.Ser138=) rs772960606
NM_001042432.2(CLN3):c.790+281_790+292del rs755660742
NM_001042432.2(CLN3):c.790+292del rs755660742

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