ClinVar Miner

List of variants in gene CLTC studied for Inborn genetic diseases

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_004859.4(CLTC):c.4774A>G (p.Met1592Val) rs143886947 0.00013
NM_004859.4(CLTC):c.469C>T (p.Arg157Cys) rs768460001 0.00001
NM_004859.4(CLTC):c.4978A>G (p.Thr1660Ala) rs1411381430 0.00001
NM_004859.4(CLTC):c.1761G>A (p.Met587Ile) rs2032727657
NM_004859.4(CLTC):c.1843C>T (p.Gln615Ter) rs2032737194
NM_004859.4(CLTC):c.2080_2094del (p.Ser694_Leu698del)
NM_004859.4(CLTC):c.2204C>T (p.Ala735Val) rs1555605688
NM_004859.4(CLTC):c.2332T>C (p.Cys778Arg) rs2032904710
NM_004859.4(CLTC):c.2737_2738dup (p.Asp913fs) rs797044884
NM_004859.4(CLTC):c.3137G>A (p.Arg1046His) rs1376342815
NM_004859.4(CLTC):c.321T>A (p.Asp107Glu)
NM_004859.4(CLTC):c.3233A>G (p.Asn1078Ser)
NM_004859.4(CLTC):c.326C>A (p.Thr109Asn)
NM_004859.4(CLTC):c.3376G>A (p.Asp1126Asn)
NM_004859.4(CLTC):c.3427G>A (p.Ala1143Thr)
NM_004859.4(CLTC):c.3434A>G (p.Asn1145Ser)
NM_004859.4(CLTC):c.3766G>T (p.Val1256Phe) rs1555607375
NM_004859.4(CLTC):c.394A>G (p.Met132Val)
NM_004859.4(CLTC):c.4606-1G>A
NM_004859.4(CLTC):c.4663C>T (p.Gln1555Ter) rs1555607682
NM_004859.4(CLTC):c.4862_4866del (p.Lys1621fs)
NM_004859.4(CLTC):c.4903+4A>C
NM_004859.4(CLTC):c.4904-1G>A rs781677731
NM_004859.4(CLTC):c.637T>A (p.Ser213Thr)

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