ClinVar Miner

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

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_000356.4(TCOF1):c.1148G>T (p.Gly383Val)
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.2344C>G (p.Gln782Glu) rs201043592
NM_000356.4(TCOF1):c.2531C>T (p.Pro844Leu) rs150515843
NM_000356.4(TCOF1):c.2785G>A (p.Val929Met)
NM_000356.4(TCOF1):c.3449C>T (p.Ser1150Phe) rs1554079581
NM_000356.4(TCOF1):c.3455C>T (p.Pro1152Leu)
NM_000356.4(TCOF1):c.3652A>G (p.Ile1218Val) rs1297478685
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.449A>G (p.Asn150Ser) rs141805606
NM_000356.4(TCOF1):c.640-1973A>G rs1562326677
NM_005850.4(SF3B4):c.-255A>C rs28362636
NM_005850.4(SF3B4):c.-263dupA rs762430957
NM_005850.5(SF3B4):c.1110G>A (p.Pro370=) rs782435530
NM_005850.5(SF3B4):c.148A>G (p.Thr50Ala) rs886045256
NM_005850.5(SF3B4):c.600G>A (p.Pro200=) rs148753561
NM_005850.5(SF3B4):c.707-8C>A rs371485646
NM_203290.4(POLR1C):c.229C>T (p.Arg77Ter) rs886061427

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