ClinVar Miner

List of variants in gene TECPR2 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_014844.5(TECPR2):c.952-5G>A rs55716270 0.00869
NM_014844.5(TECPR2):c.3275C>T (p.Ser1092Leu) rs72700618 0.00388
NM_014844.5(TECPR2):c.2939G>C (p.Arg980Thr) rs144147210 0.00331
NM_014844.5(TECPR2):c.1260C>T (p.Ser420=) rs147784739 0.00286
NM_014844.5(TECPR2):c.4081+8C>A rs199845217 0.00143
NM_014844.5(TECPR2):c.4089G>A (p.Ala1363=) rs139314486 0.00134
NM_014844.5(TECPR2):c.1644T>G (p.Asn548Lys) rs72700613 0.00114
NM_014844.5(TECPR2):c.1605C>T (p.Asn535=) rs145715326 0.00080
NM_014844.5(TECPR2):c.1981G>A (p.Glu661Lys) rs144915346 0.00065
NM_014844.5(TECPR2):c.4033G>A (p.Ala1345Thr) rs77170608 0.00051
NM_014844.5(TECPR2):c.2847G>A (p.Ala949=) rs145452704 0.00035
NM_014844.5(TECPR2):c.3831C>T (p.Asn1277=) rs200792120 0.00024
NM_014844.5(TECPR2):c.2370C>T (p.Asp790=) rs775511129 0.00011
NM_014844.5(TECPR2):c.1128C>T (p.His376=) rs146157601 0.00009
NM_014844.5(TECPR2):c.2307G>A (p.Thr769=) rs368168319 0.00008
NM_014844.5(TECPR2):c.1471G>A (p.Glu491Lys) rs751957510 0.00006
NM_014844.5(TECPR2):c.2394+3A>G rs776681603 0.00005
NM_014844.5(TECPR2):c.1335C>T (p.Asn445=) rs778115838 0.00004
NM_014844.5(TECPR2):c.4032C>T (p.Pro1344=) rs764511150 0.00004
NM_014844.5(TECPR2):c.2752+8C>T rs774960200 0.00003
NM_014844.5(TECPR2):c.3204G>A (p.Ala1068=) rs774882832 0.00003
NM_014844.5(TECPR2):c.3525C>T (p.Ala1175=) rs559134152 0.00003
NM_014844.5(TECPR2):c.2871G>A (p.Leu957=) rs770910435 0.00002
NM_014844.5(TECPR2):c.3297C>T (p.Val1099=) rs145454921 0.00001
NM_014844.5(TECPR2):c.3549G>A (p.Ala1183=) rs564868110 0.00001
NM_014844.5(TECPR2):c.744C>T (p.His248=) rs771721656 0.00001
NM_014844.5(TECPR2):c.1872G>A (p.Ala624=) rs145129878
NM_014844.5(TECPR2):c.2244A>C (p.Thr748=) rs977750461
NM_014844.5(TECPR2):c.2442C>T (p.Leu814=) rs1227670267
NM_014844.5(TECPR2):c.708A>G (p.Ser236=) rs2139716000

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