ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_000356.4(TCOF1):c.1769G>A (p.Arg590Gln) rs146735293
NM_000356.4(TCOF1):c.2535G>A (p.Ser845=) rs369562565
NM_000356.4(TCOF1):c.3789G>A (p.Lys1263=) rs199890846
NM_000356.4(TCOF1):c.4154A>G (p.Lys1385Arg) rs200645401
NM_000356.4(TCOF1):c.4184C>T (p.Pro1395Leu) rs148367422
NM_000356.4(TCOF1):c.640-1981_640-1964del rs528897827
NM_001371623.1(TCOF1):c.1217G>A (p.Arg406Gln) rs140204483
NM_001371623.1(TCOF1):c.1361C>T (p.Ala454Val) rs375227693
NM_001371623.1(TCOF1):c.1390G>A (p.Ala464Thr) rs150956690
NM_001371623.1(TCOF1):c.1552G>A (p.Gly518Arg) rs201537012
NM_001371623.1(TCOF1):c.1723A>G (p.Ile575Val) rs35918007
NM_001371623.1(TCOF1):c.2000G>C (p.Arg667Pro) rs146735293
NM_001371623.1(TCOF1):c.2248A>G (p.Thr750Ala) rs149384321
NM_001371623.1(TCOF1):c.2332C>T (p.Pro778Ser) rs368225177
NM_001371623.1(TCOF1):c.2395G>T (p.Ala799Ser) rs373946807
NM_001371623.1(TCOF1):c.3827G>A (p.Arg1276Gln)
NM_001371623.1(TCOF1):c.651A>G (p.Ser217=) rs370179351
NM_001371623.1(TCOF1):c.866G>A (p.Ser289Asn) rs188279654

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