ClinVar Miner

List of variants in gene MTOR reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_004958.4(MTOR):c.1051C>T (p.Pro351Ser) rs147774167 0.00017
NM_004958.4(MTOR):c.1555G>A (p.Ala519Thr) rs201577876 0.00008
NM_004958.4(MTOR):c.889G>A (p.Asp297Asn) rs141936187 0.00006
NM_004958.4(MTOR):c.1577G>A (p.Arg526His) rs1363405074 0.00002
NM_004958.4(MTOR):c.3405G>A (p.Ala1135=) rs750981339 0.00001
NM_004958.4(MTOR):c.3649G>C (p.Val1217Leu) rs1315147069 0.00001
NM_004958.4(MTOR):c.6130G>A (p.Val2044Met) rs868627779 0.00001
NM_004958.4(MTOR):c.6329G>A (p.Arg2110Gln) rs1182513423 0.00001
NM_004958.4(MTOR):c.6810+3A>G rs764947666 0.00001
NM_004958.4(MTOR):c.6875A>G (p.Asn2292Ser) rs374052581 0.00001
NM_004958.4(MTOR):c.1019A>G (p.Gln340Arg) rs1649062802
NM_004958.4(MTOR):c.1133T>C (p.Leu378Pro)
NM_004958.4(MTOR):c.1500dup (p.Ile501fs)
NM_004958.4(MTOR):c.1502T>C (p.Ile501Thr)
NM_004958.4(MTOR):c.1542C>T (p.Ser514=)
NM_004958.4(MTOR):c.1570C>G (p.Leu524Val) rs2100910398
NM_004958.4(MTOR):c.1572G>A (p.Leu524=)
NM_004958.4(MTOR):c.16C>T (p.Pro6Ser)
NM_004958.4(MTOR):c.1892C>T (p.Thr631Ile)
NM_004958.4(MTOR):c.2272G>C (p.Gly758Arg) rs1484674652
NM_004958.4(MTOR):c.2314A>G (p.Met772Val) rs1377200831
NM_004958.4(MTOR):c.2331+4A>C
NM_004958.4(MTOR):c.2332G>A (p.Ala778Thr) rs2100878601
NM_004958.4(MTOR):c.2970G>T (p.Leu990=) rs773965631
NM_004958.4(MTOR):c.3238C>T (p.Arg1080Cys)
NM_004958.4(MTOR):c.3404C>T (p.Ala1135Val)
NM_004958.4(MTOR):c.3671A>G (p.Asp1224Gly)
NM_004958.4(MTOR):c.3901C>T (p.Arg1301Cys) rs1646080085
NM_004958.4(MTOR):c.4770G>A (p.Met1590Ile) rs1386078325
NM_004958.4(MTOR):c.5011A>G (p.Lys1671Glu)
NM_004958.4(MTOR):c.5033dup (p.Val1679fs)
NM_004958.4(MTOR):c.5047C>T (p.Arg1683Trp)
NM_004958.4(MTOR):c.5072C>G (p.Thr1691Arg) rs764574187
NM_004958.4(MTOR):c.50G>A (p.Ser17Asn) rs200587372
NM_004958.4(MTOR):c.5526C>A (p.Ala1842=)
NM_004958.4(MTOR):c.5533_5544del (p.Glu1845_Asn1848del) rs2100430684
NM_004958.4(MTOR):c.6455G>T (p.Arg2152Leu) rs764978010
NM_004958.4(MTOR):c.7260C>G (p.Ala2420=) rs2100315285
NM_004958.4(MTOR):c.7406A>G (p.Lys2469Arg) rs1641757253

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