ClinVar Miner

List of variants in gene CLTC reported as uncertain significance for Inborn genetic diseases

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_004859.4(CLTC):c.2768G>A (p.Arg923His) rs374166486 0.00003
NM_004859.4(CLTC):c.3427G>A (p.Ala1143Thr) rs752403435 0.00003
NM_004859.4(CLTC):c.1019A>G (p.Asn340Ser) rs750086173 0.00001
NM_004859.4(CLTC):c.2846G>A (p.Arg949His) rs774841659 0.00001
NM_004859.4(CLTC):c.3233A>G (p.Asn1078Ser) rs759911857 0.00001
NM_004859.4(CLTC):c.326C>A (p.Thr109Asn) rs1186340281 0.00001
NM_004859.4(CLTC):c.3434A>G (p.Asn1145Ser) rs756406467 0.00001
NM_004859.4(CLTC):c.469C>T (p.Arg157Cys) rs768460001 0.00001
NM_004859.4(CLTC):c.4744G>A (p.Val1582Ile) rs780462309 0.00001
NM_004859.4(CLTC):c.485A>G (p.Gln162Arg) rs1206434603 0.00001
NM_004859.4(CLTC):c.4978A>G (p.Thr1660Ala) rs1411381430 0.00001
NM_004859.4(CLTC):c.1006C>T (p.Pro336Ser)
NM_004859.4(CLTC):c.1127A>G (p.Asn376Ser) rs1390248582
NM_004859.4(CLTC):c.1160C>T (p.Ala387Val) rs2509377423
NM_004859.4(CLTC):c.1761G>A (p.Met587Ile) rs2032727657
NM_004859.4(CLTC):c.2302C>G (p.Leu768Val) rs2509138641
NM_004859.4(CLTC):c.2332T>C (p.Cys778Arg) rs2032904710
NM_004859.4(CLTC):c.2391A>C (p.Gln797His)
NM_004859.4(CLTC):c.2842G>A (p.Val948Ile)
NM_004859.4(CLTC):c.3091A>T (p.Thr1031Ser)
NM_004859.4(CLTC):c.3137G>A (p.Arg1046His) rs1376342815
NM_004859.4(CLTC):c.3376G>A (p.Asp1126Asn) rs2509151695
NM_004859.4(CLTC):c.3526G>A (p.Ala1176Thr)
NM_004859.4(CLTC):c.3766G>T (p.Val1256Phe) rs1555607375
NM_004859.4(CLTC):c.3775G>A (p.Ala1259Thr) rs772988240
NM_004859.4(CLTC):c.394A>G (p.Met132Val) rs2509361443
NM_004859.4(CLTC):c.469C>A (p.Arg157Ser)
NM_004859.4(CLTC):c.4903+4A>C rs2033276579
NM_004859.4(CLTC):c.592G>A (p.Ala198Thr)
NM_004859.4(CLTC):c.602T>C (p.Phe201Ser) rs2509362468
NM_004859.4(CLTC):c.637T>A (p.Ser213Thr) rs2509362497
NM_004859.4(CLTC):c.697G>A (p.Val233Ile)
NM_004859.4(CLTC):c.713C>T (p.Thr238Ile)
NM_004859.4(CLTC):c.742G>A (p.Val248Met) rs2509365314

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