ClinVar Miner

List of variants in gene CLN6 reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) rs143578698 0.00169
NM_017882.3(CLN6):c.53C>T (p.Ala18Val) rs547125345 0.00120
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly) rs3743088 0.00042
NM_017882.3(CLN6):c.199-5C>T rs371705916 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.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.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.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.119C>T (p.Thr40Met) rs769199442
NM_017882.3(CLN6):c.190A>G (p.Ile64Val)
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.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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