ClinVar Miner

List of variants in gene TCOF1 reported as uncertain significance

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Total variants: 53
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HGVS dbSNP
NM_000356.4(TCOF1):c.*151C>T rs886060265
NM_000356.4(TCOF1):c.*233C>T rs886060266
NM_000356.4(TCOF1):c.-19C>T rs761394443
NM_000356.4(TCOF1):c.-39C>T rs771909633
NM_000356.4(TCOF1):c.1148G>T (p.Gly383Val)
NM_000356.4(TCOF1):c.1257+5G>A rs1554136339
NM_000356.4(TCOF1):c.1275A>G (p.Lys425=) rs570537135
NM_000356.4(TCOF1):c.1316C>T (p.Pro439Leu) rs138645438
NM_000356.4(TCOF1):c.1367C>T (p.Thr456Ile) rs377521530
NM_000356.4(TCOF1):c.1398G>C (p.Glu466Asp) rs138254692
NM_000356.4(TCOF1):c.1462G>T (p.Ala488Ser) rs746889823
NM_000356.4(TCOF1):c.1477A>G (p.Lys493Glu) rs762339373
NM_000356.4(TCOF1):c.1558G>A (p.Val520Ile) rs147742838
NM_000356.4(TCOF1):c.1589A>G (p.Asn530Ser) rs777672775
NM_000356.4(TCOF1):c.1769G>A (p.Arg590Gln) rs146735293
NM_000356.4(TCOF1):c.1862A>T (p.Glu621Val)
NM_000356.4(TCOF1):c.187C>T (p.Arg63Trp)
NM_000356.4(TCOF1):c.1912-5C>T rs781214207
NM_000356.4(TCOF1):c.2344C>G (p.Gln782Glu) rs201043592
NM_000356.4(TCOF1):c.2485T>A (p.Ser829Thr) rs752302098
NM_000356.4(TCOF1):c.2496A>G (p.Lys832=)
NM_000356.4(TCOF1):c.2531C>T (p.Pro844Leu) rs150515843
NM_000356.4(TCOF1):c.2535G>A (p.Ser845=) rs369562565
NM_000356.4(TCOF1):c.2586A>T (p.Ser862=) rs772987244
NM_000356.4(TCOF1):c.2692C>G (p.Pro898Ala) rs374457446
NM_000356.4(TCOF1):c.2739G>A (p.Ser913=) rs370130791
NM_000356.4(TCOF1):c.2739G>C (p.Ser913=) rs370130791
NM_000356.4(TCOF1):c.2759C>G (p.Ser920Cys) rs886060261
NM_000356.4(TCOF1):c.2785G>A (p.Val929Met)
NM_000356.4(TCOF1):c.289G>A (p.Glu97Lys) rs200561413
NM_000356.4(TCOF1):c.3014A>G (p.Gln1005Arg) rs773138164
NM_000356.4(TCOF1):c.3054G>A (p.Gln1018=) rs886060262
NM_000356.4(TCOF1):c.3386A>G (p.Tyr1129Cys) rs146226591
NM_000356.4(TCOF1):c.3394C>T (p.Pro1132Ser) rs558530968
NM_000356.4(TCOF1):c.3449C>T (p.Ser1150Phe) rs1554079581
NM_000356.4(TCOF1):c.3455C>T (p.Pro1152Leu)
NM_000356.4(TCOF1):c.3551-13TC[2] rs886060263
NM_000356.4(TCOF1):c.3652A>G (p.Ile1218Val) rs1297478685
NM_000356.4(TCOF1):c.3803G>T (p.Arg1268Leu) rs979889720
NM_000356.4(TCOF1):c.3810G>A (p.Arg1270=) rs771291811
NM_000356.4(TCOF1):c.4050G>T (p.Thr1350=) rs148889187
NM_000356.4(TCOF1):c.4127A>G (p.Glu1376Gly) rs1561543582
NM_000356.4(TCOF1):c.4140_4142GAA[1] (p.Lys1382_Lys1383del)
NM_000356.4(TCOF1):c.4140_4142GAA[2] (p.Lys1383del) rs151344581
NM_000356.4(TCOF1):c.4184C>T (p.Pro1395Leu)
NM_000356.4(TCOF1):c.449A>G (p.Asn150Ser) rs141805606
NM_000356.4(TCOF1):c.634G>A (p.Val212Met) rs200204590
NM_000356.4(TCOF1):c.640-1973A>G rs1562326677
NM_000356.4(TCOF1):c.640-1981_640-1964del rs528897827
NM_000356.4(TCOF1):c.640-2034C>G rs779932567
NM_000356.4(TCOF1):c.731G>A (p.Gly244Glu) rs1554135341
NM_000356.4(TCOF1):c.803A>G (p.Glu268Gly) rs150637771
NM_000356.4(TCOF1):c.897C>A (p.Ala299=) rs149825269

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