ClinVar Miner

List of variants studied for Pierre Robin syndrome associated with branchial archs anomalies by Invitae

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
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HGVS dbSNP
NC_000005.9:g.(?_149767445)_(149778631_?)del
NC_000005.9:g.(?_149778565)_(149778631_?)del
NM_000356.4(TCOF1):c.1047+1G>A rs886041506
NM_000356.4(TCOF1):c.1050G>A (p.Ala350=) rs113299143
NM_000356.4(TCOF1):c.1127dup (p.Ala377fs) rs1554136123
NM_000356.4(TCOF1):c.1146_1147del (p.Gly383fs) rs1562347303
NM_000356.4(TCOF1):c.1148G>T (p.Gly383Val)
NM_000356.4(TCOF1):c.1217_1220del (p.Asp406fs) rs1064794474
NM_000356.4(TCOF1):c.122C>T (p.Ala41Val) rs56180593
NM_000356.4(TCOF1):c.1329dup (p.Ala444fs)
NM_000356.4(TCOF1):c.1359G>A (p.Gly453=) rs145539529
NM_000356.4(TCOF1):c.1404_1405AG[1] (p.Glu469fs) rs587776583
NM_000356.4(TCOF1):c.1552G>A (p.Val518Ile) rs75583421
NM_000356.4(TCOF1):c.1769G>A (p.Arg590Gln) rs146735293
NM_000356.4(TCOF1):c.1862A>T (p.Glu621Val)
NM_000356.4(TCOF1):c.1863A>G (p.Glu621=) rs34796297
NM_000356.4(TCOF1):c.187C>T (p.Arg63Trp)
NM_000356.4(TCOF1):c.1915_1916del (p.Lys639fs) rs1554137419
NM_000356.4(TCOF1):c.2052_2053CT[1] (p.Asp684_Ser685insTer) rs1554137531
NM_000356.4(TCOF1):c.2122del (p.Ser707_Val708insTer)
NM_000356.4(TCOF1):c.2534C>T (p.Ser845Leu) rs114689020
NM_000356.4(TCOF1):c.2535G>A (p.Ser845=) rs369562565
NM_000356.4(TCOF1):c.2564C>G (p.Ser855Ter) rs1554138811
NM_000356.4(TCOF1):c.2565_2566del (p.Gly856fs) rs1554138819
NM_000356.4(TCOF1):c.2611G>T (p.Ala871Ser) rs181102251
NM_000356.4(TCOF1):c.2785G>A (p.Val929Met)
NM_000356.4(TCOF1):c.2902dup (p.Glu968fs) rs1554078461
NM_000356.4(TCOF1):c.3108G>A (p.Gln1036=) rs147074393
NM_000356.4(TCOF1):c.3279C>T (p.His1093=) rs116354094
NM_000356.4(TCOF1):c.3391del (p.Thr1131fs)
NM_000356.4(TCOF1):c.3455C>T (p.Pro1152Leu)
NM_000356.4(TCOF1):c.3478G>A (p.Ala1160Thr) rs137960641
NM_000356.4(TCOF1):c.3557_3558del (p.Lys1186fs)
NM_000356.4(TCOF1):c.3652A>G (p.Ile1218Val) rs1297478685
NM_000356.4(TCOF1):c.3773A>G (p.Lys1258Arg) rs55980697
NM_000356.4(TCOF1):c.378+1G>A
NM_000356.4(TCOF1):c.3789G>A (p.Lys1263=) rs199890846
NM_000356.4(TCOF1):c.3987dup (p.Ser1330fs) rs1561540623
NM_000356.4(TCOF1):c.4061G>C (p.Gly1354Ala) rs45491898
NM_000356.4(TCOF1):c.4092_4094GAA[2] (p.Lys1367del) rs574569798
NM_000356.4(TCOF1):c.4124_4125del (p.Lys1375fs) rs1554081108
NM_000356.4(TCOF1):c.4126_4129del (p.Glu1376fs) rs1554081112
NM_000356.4(TCOF1):c.4127A>G (p.Glu1376Gly) rs1561543582
NM_000356.4(TCOF1):c.4130_4134del (p.Lys1377fs)
NM_000356.4(TCOF1):c.4133_4137AAGAA[1] (p.Lys1380fs) rs587776582
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.4154A>G (p.Lys1385Arg) rs200645401
NM_000356.4(TCOF1):c.4175_4176del (p.Asp1391_Ser1392insTer) rs1554081168
NM_000356.4(TCOF1):c.449A>G (p.Asn150Ser) rs141805606
NM_000356.4(TCOF1):c.50A>G (p.His17Arg) rs1057521108
NM_000356.4(TCOF1):c.640-1946C>T rs748805008
NM_000356.4(TCOF1):c.640-1973A>G rs1562326677
NM_000356.4(TCOF1):c.640-1981_640-1964del rs528897827
NM_000356.4(TCOF1):c.902C>T (p.Ala301Val) rs75181211
NM_000356.4(TCOF1):c.998C>T (p.Ser333Leu) rs114326915
Single allele

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