ClinVar Miner

List of variants in gene CLN5 reported by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 94
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HGVS dbSNP gnomAD frequency
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209 0.19521
NM_006493.4(CLN5):c.-144C>T rs77416795 0.12832
NM_006493.4(CLN5):c.-76A>G rs7987664 0.07840
NM_006493.4(CLN5):c.1041T>C (p.Pro347=) rs36038805 0.03060
NM_006493.4(CLN5):c.381T>G (p.Thr127=) rs34481987 0.01377
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001 0.00910
NM_006493.4(CLN5):c.-87C>T rs200353554 0.00309
NM_006493.4(CLN5):c.-99G>C rs202118652 0.00208
NM_006493.4(CLN5):c.-146T>C rs201615354 0.00104
NM_006493.4(CLN5):c.459G>A (p.Met153Ile) rs144656959 0.00058
NM_006493.4(CLN5):c.5C>T (p.Ala2Val) rs146993892 0.00050
NM_006493.4(CLN5):c.265G>A (p.Asp89Asn) rs138110438 0.00034
NM_006493.4(CLN5):c.1045C>T (p.Pro349Ser) rs41287036 0.00026
NM_006493.4(CLN5):c.656A>C (p.Glu219Ala) rs11842935 0.00021
NM_006493.4(CLN5):c.565+3_565+4dup rs745312608 0.00019
NM_006493.4(CLN5):c.1026A>G (p.Thr342=) rs200637649 0.00011
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392 0.00010
NM_006493.4(CLN5):c.-4C>T rs587780896 0.00009
NM_006493.4(CLN5):c.-83G>T rs576642281 0.00009
NM_006493.4(CLN5):c.1019A>C (p.Lys340Thr) rs745767054 0.00009
NM_006493.4(CLN5):c.812A>G (p.Asn271Ser) rs199609750 0.00009
NM_006493.4(CLN5):c.-47C>G rs937545860 0.00008
NM_006493.4(CLN5):c.569A>G (p.Asn190Ser) rs369100769 0.00007
NM_006493.4(CLN5):c.642A>T (p.Val214=) rs751496223 0.00007
NM_006493.4(CLN5):c.1048A>G (p.Ile350Val) rs762333226 0.00006
NM_006493.4(CLN5):c.662G>A (p.Gly221Glu) rs368428437 0.00006
NM_006493.4(CLN5):c.-21G>A rs529998879 0.00005
NM_006493.4(CLN5):c.1A>T (p.Met1Leu) rs371624826 0.00004
NM_006493.4(CLN5):c.486C>T (p.Gly162=) rs769007858 0.00004
NM_006493.4(CLN5):c.-103G>T rs777933047 0.00003
NM_006493.4(CLN5):c.-123C>T rs767048749 0.00003
NM_006493.4(CLN5):c.-141C>T rs759859373 0.00003
NM_006493.4(CLN5):c.-14C>T rs768714949 0.00003
NM_006493.4(CLN5):c.-78G>T rs540811599 0.00003
NM_006493.4(CLN5):c.176G>A (p.Arg59His) rs753197537 0.00003
NM_006493.4(CLN5):c.371G>A (p.Ser124Asn) rs369122820 0.00003
NM_006493.4(CLN5):c.420A>G (p.Gln140=) rs753732321 0.00003
NM_006493.4(CLN5):c.424G>C (p.Gly142Arg) rs201464545 0.00003
NM_006493.4(CLN5):c.487G>A (p.Ala163Thr) rs148544801 0.00003
NM_006493.4(CLN5):c.522dup (p.Trp175fs) rs386833979 0.00003
NM_006493.4(CLN5):c.572T>C (p.Met191Thr) rs771119692 0.00003
NM_006493.4(CLN5):c.869G>T (p.Arg290Ile) rs770688728 0.00003
NM_006493.4(CLN5):c.-84C>A rs558597827 0.00002
NM_006493.4(CLN5):c.339+5G>C rs202146713 0.00002
NM_006493.4(CLN5):c.339+6G>A rs1468101 0.00002
NM_006493.4(CLN5):c.526A>G (p.Lys176Glu) rs142870036 0.00002
NM_006493.4(CLN5):c.-109T>A rs758802850 0.00001
NM_006493.4(CLN5):c.-113G>T rs1465531119 0.00001
NM_006493.4(CLN5):c.-11G>C rs774598730 0.00001
NM_006493.4(CLN5):c.-74T>C rs1182554801 0.00001
NM_006493.4(CLN5):c.-86C>T rs988786332 0.00001
NM_006493.4(CLN5):c.13G>A (p.Val5Ile) rs1064795659 0.00001
NM_006493.4(CLN5):c.188G>A (p.Arg63His) rs104894386 0.00001
NM_006493.4(CLN5):c.247A>G (p.Ile83Val) rs750283603 0.00001
NM_006493.4(CLN5):c.296C>T (p.Ala99Val) rs143759121 0.00001
NM_006493.4(CLN5):c.323A>C (p.Asp108Ala) rs368672718 0.00001
NM_006493.4(CLN5):c.430T>C (p.Cys144Arg) rs1593911055 0.00001
NM_006493.4(CLN5):c.435A>G (p.Thr145=) rs1031492461 0.00001
NM_006493.4(CLN5):c.467C>T (p.Pro156Leu) rs780802058 0.00001
NM_006493.4(CLN5):c.490G>T (p.Ala164Ser) rs748549252 0.00001
NM_006493.4(CLN5):c.755T>C (p.Ile252Thr) rs1439976492 0.00001
NM_006493.4(CLN5):c.764A>C (p.Asn255Thr) rs929479143 0.00001
NM_006493.4(CLN5):c.773G>A (p.Arg258Lys) rs376675270 0.00001
NM_006493.4(CLN5):c.904A>G (p.Lys302Glu) rs1060502320 0.00001
NM_006493.4(CLN5):c.935T>C (p.Phe312Ser) rs201767993 0.00001
NM_006493.4(CLN5):c.-23C>T rs949213778
NM_006493.4(CLN5):c.-75C>G rs754544785
NM_006493.4(CLN5):c.-86C>G rs988786332
NM_006493.4(CLN5):c.-94A>T rs767480061
NM_006493.4(CLN5):c.-96C>G rs773979248
NM_006493.4(CLN5):c.-97del rs765323914
NM_006493.4(CLN5):c.-98G>T rs769990158
NM_006493.4(CLN5):c.-99G>A rs202118652
NM_006493.4(CLN5):c.1000A>G (p.Met334Val) rs747998609
NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer) rs386833969
NM_006493.4(CLN5):c.175C>T (p.Arg59Cys) rs765773686
NM_006493.4(CLN5):c.270T>A (p.Asp90Glu) rs898862493
NM_006493.4(CLN5):c.287G>A (p.Arg96Gln) rs201068201
NM_006493.4(CLN5):c.358A>G (p.Ile120Val) rs1231886495
NM_006493.4(CLN5):c.398T>G (p.Met133Arg) rs1419308949
NM_006493.4(CLN5):c.415T>C (p.Phe139Leu) rs794727507
NM_006493.4(CLN5):c.442C>T (p.His148Tyr) rs752563013
NM_006493.4(CLN5):c.446T>C (p.Leu149Pro) rs386833976
NM_006493.4(CLN5):c.500T>C (p.Phe167Ser) rs1393893027
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer) rs587780315
NM_006493.4(CLN5):c.544G>A (p.Val182Ile) rs1064795474
NM_006493.4(CLN5):c.704T>C (p.Val235Ala) rs535755345
NM_006493.4(CLN5):c.757G>C (p.Glu253Gln) rs1232560552
NM_006493.4(CLN5):c.808_823del (p.Gly270fs) rs386833983
NM_006493.4(CLN5):c.885C>G (p.Phe295Leu) rs772050001
NM_006493.4(CLN5):c.920G>A (p.Ser307Asn) rs1555274374
NM_006493.4(CLN5):c.956_959del (p.Lys319fs) rs386833967
NM_006493.4(CLN5):c.963C>T (p.Phe321=) rs756149425
NM_006493.4(CLN5):c.990G>A (p.Trp330Ter) rs386833968

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