ClinVar Miner

List of variants in gene CLN6 studied for Inborn genetic diseases

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01339
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly) rs151295143 0.00475
NM_017882.3(CLN6):c.840G>A (p.Leu280=) rs148949069 0.00198
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) rs143578698 0.00169
NM_017882.3(CLN6):c.339G>A (p.Thr113=) rs146135801 0.00141
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) rs104894483 0.00140
NM_017882.3(CLN6):c.53C>T (p.Ala18Val) rs547125345 0.00120
NM_017882.3(CLN6):c.270C>T (p.Asn90=) rs145247814 0.00104
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly) rs3743088 0.00042
NM_017882.3(CLN6):c.42C>A (p.Gly14=) rs373776911 0.00036
NM_017882.3(CLN6):c.282C>A (p.Pro94=) rs139261571 0.00021
NM_017882.3(CLN6):c.741C>T (p.His247=) rs140653271 0.00020
NM_017882.3(CLN6):c.585C>T (p.Gly195=) rs144507672 0.00011
NM_017882.3(CLN6):c.199-5C>T rs371705916 0.00006
NM_017882.3(CLN6):c.271G>A (p.Val91Ile) rs140519790 0.00006
NM_017882.3(CLN6):c.799G>A (p.Ala267Thr) rs374613712 0.00006
NM_017882.3(CLN6):c.103G>A (p.Asp35Asn) rs533231370 0.00004
NM_017882.3(CLN6):c.755G>A (p.Arg252His) rs374681194 0.00004
NM_017882.3(CLN6):c.120G>A (p.Thr40=) rs1034192926 0.00003
NM_017882.3(CLN6):c.831C>T (p.Val277=) rs753344266 0.00003
NM_017882.3(CLN6):c.423C>T (p.Gly141=) rs1484448524 0.00002
NM_017882.3(CLN6):c.482C>T (p.Thr161Met) rs757734645 0.00002
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser) rs763944821 0.00002
NM_017882.3(CLN6):c.775G>A (p.Gly259Ser) rs150363441 0.00002
NM_017882.3(CLN6):c.94G>C (p.Val32Leu) rs369041224 0.00002
NM_017882.3(CLN6):c.99C>T (p.Ser33=) rs752449801 0.00002
NM_017882.3(CLN6):c.199-4G>A rs767945732 0.00001
NM_017882.3(CLN6):c.296A>G (p.Lys99Arg) rs146782642 0.00001
NM_017882.3(CLN6):c.304G>A (p.Glu102Lys) rs796052352 0.00001
NM_017882.3(CLN6):c.486+1G>A rs756522171 0.00001
NM_017882.3(CLN6):c.547A>G (p.Ile183Val) rs766500060 0.00001
NM_017882.3(CLN6):c.704T>A (p.Ile235Asn) rs1469917052 0.00001
NM_017882.3(CLN6):c.718G>A (p.Ala240Thr) rs779105796 0.00001
NM_017882.3(CLN6):c.763C>T (p.Leu255=) rs1195840845 0.00001
NM_017882.3(CLN6):c.119C>T (p.Thr40Met) rs769199442
NM_017882.3(CLN6):c.190A>G (p.Ile64Val)
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter) rs104894483
NM_017882.3(CLN6):c.297+4C>T rs1030759897
NM_017882.3(CLN6):c.299T>G (p.Leu100Arg) rs1555438702
NM_017882.3(CLN6):c.400A>C (p.Asn134His)
NM_017882.3(CLN6):c.425A>G (p.Tyr142Cys) rs1227254537
NM_017882.3(CLN6):c.64G>T (p.Ala22Ser) rs527373013
NM_017882.3(CLN6):c.707T>C (p.Phe236Ser)
NM_017882.3(CLN6):c.723G>C (p.Met241Ile)
NM_017882.3(CLN6):c.83G>C (p.Arg28Thr)

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