ClinVar Miner

List of variants reported as uncertain significance 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: 11
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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.2785G>A (p.Val929Met)
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.449A>G (p.Asn150Ser) rs141805606
NM_000356.4(TCOF1):c.640-1973A>G rs1562326677

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