ClinVar Miner

List of variants reported as benign for Pierre Robin syndrome associated with branchial archs anomalies

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_000356.4(TCOF1):c.1047+60G>C rs143713714
NM_000356.4(TCOF1):c.1050G>A (p.Ala350=) rs113299143
NM_000356.4(TCOF1):c.122C>T (p.Ala41Val) rs56180593
NM_000356.4(TCOF1):c.1359G>A (p.Gly453=) rs145539529
NM_000356.4(TCOF1):c.1552G>A (p.Val518Ile) rs75583421
NM_000356.4(TCOF1):c.1863A>G (p.Glu621=) rs34796297
NM_000356.4(TCOF1):c.2534C>T (p.Ser845Leu) rs114689020
NM_000356.4(TCOF1):c.2611G>T (p.Ala871Ser) rs181102251
NM_000356.4(TCOF1):c.2628+3303G>A rs112447402
NM_000356.4(TCOF1):c.305-52A>G rs41287124
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.3478G>A (p.Ala1160Thr) rs137960641
NM_000356.4(TCOF1):c.3773A>G (p.Lys1258Arg) rs55980697
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.4140_4142GAA[2] (p.Lys1383del) rs151344581
NM_000356.4(TCOF1):c.4209+108C>A rs111365835
NM_000356.4(TCOF1):c.852+39G>A rs56113366
NM_000356.4(TCOF1):c.902C>T (p.Ala301Val) rs75181211
NM_000356.4(TCOF1):c.998C>T (p.Ser333Leu) rs114326915
NM_005850.4(SF3B4):c.-116C>T rs60631776
NM_005850.4(SF3B4):c.-234T>C rs72692813
NM_005850.4(SF3B4):c.-297C>T rs17643644
NM_005850.5(SF3B4):c.978C>A (p.Pro326=) rs58383987

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