ClinVar Miner

List of variants in gene CLTC reported as uncertain significance for CLTC-related disorder

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004859.4(CLTC):c.4870G>C (p.Glu1624Gln) rs954171738 0.00001
NM_004859.4(CLTC):c.1670A>G (p.Asn557Ser) rs2032725613
NM_004859.4(CLTC):c.3196G>A (p.Glu1066Lys) rs2509150855
NM_004859.4(CLTC):c.353C>T (p.Thr118Met) rs756221208
NM_004859.4(CLTC):c.3683C>T (p.Ala1228Val) rs2509153539
NM_004859.4(CLTC):c.4827G>A (p.Lys1609=) rs2509158862
NM_004859.4(CLTC):c.727T>C (p.Phe243Leu) rs2509365284

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