ClinVar Miner

List of variants in gene CLTC reported as pathogenic for not provided

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Gene type:
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NC_000017.10:g.(?_57721617)_(57771213_?)del
NM_004859.4(CLTC):c.1204C>T (p.Gln402Ter)
NM_004859.4(CLTC):c.1307del (p.Cys436fs) rs1598223933
NM_004859.4(CLTC):c.1330C>T (p.Arg444Ter)
NM_004859.4(CLTC):c.133G>T (p.Gly45Ter)
NM_004859.4(CLTC):c.1423del (p.Ala475fs) rs2032665966
NM_004859.4(CLTC):c.1660_1676dup (p.Ile559_Gln560insTrpAsnThrIleTer)
NM_004859.4(CLTC):c.187C>T (p.Arg63Ter) rs1598211790
NM_004859.4(CLTC):c.2050C>T (p.Gln684Ter) rs1555605497
NM_004859.4(CLTC):c.2129-7_2129-4del rs2143561043
NM_004859.4(CLTC):c.2259C>A (p.Cys753Ter) rs1454289985
NM_004859.4(CLTC):c.2325_2327del (p.Ile776del) rs1598233581
NM_004859.4(CLTC):c.2409T>G (p.Tyr803Ter) rs1197039101
NM_004859.4(CLTC):c.2560A>T (p.Arg854Ter) rs1555606338
NM_004859.4(CLTC):c.2651_2652del (p.Ile884fs) rs1555606630
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
NM_004859.4(CLTC):c.2793_2794del (p.Asn932fs) rs1555606652
NM_004859.4(CLTC):c.2823_2824del (p.Leu943fs) rs2143586491
NM_004859.4(CLTC):c.3115C>T (p.Arg1039Cys)
NM_004859.4(CLTC):c.3637GCT[1] (p.Ala1214del) rs1555607332
NM_004859.4(CLTC):c.4691_4692del (p.Glu1564fs) rs2143602282
NM_004859.4(CLTC):c.4791del (p.Tyr1598fs)
NM_004859.4(CLTC):c.630del (p.Glu211fs)
NM_004859.4(CLTC):c.769C>T (p.Gln257Ter) rs1555603752
NM_004859.4(CLTC):c.778_791del (p.Phe260fs)
NM_004859.4(CLTC):c.97G>T (p.Glu33Ter) rs2143496821

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