ClinVar Miner

List of variants in gene TCOF1 reported as likely benign for Pierre Robin syndrome associated with branchial archs anomalies

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_000356.4(TCOF1):c.1011C>T (p.Ser337=) rs151344569
NM_000356.4(TCOF1):c.1050G>A (p.Ala350=) rs113299143
NM_000356.4(TCOF1):c.108+62_108+68del rs151344564
NM_000356.4(TCOF1):c.109-28T>C rs144149485
NM_000356.4(TCOF1):c.1623G>A (p.Ala541=) rs151344570
NM_000356.4(TCOF1):c.1722T>C (p.Thr574=) rs151344571
NM_000356.4(TCOF1):c.1911+22C>T rs151344572
NM_000356.4(TCOF1):c.2535G>A (p.Ser845=) rs369562565
NM_000356.4(TCOF1):c.2628+26A>G rs151344574
NM_000356.4(TCOF1):c.2628+3389G>T rs151344575
NM_000356.4(TCOF1):c.3297C>T (p.Pro1099=) rs149395927
NM_000356.4(TCOF1):c.3369+64dup rs151344577
NM_000356.4(TCOF1):c.3550+8A>G rs151344578
NM_000356.4(TCOF1):c.3711A>C (p.Ser1237=) rs146509895
NM_000356.4(TCOF1):c.3789G>A (p.Lys1263=) rs199890846
NM_000356.4(TCOF1):c.4064_4065delinsGA (p.Asp1355Gly) rs151344580
NM_000356.4(TCOF1):c.4154A>G (p.Lys1385Arg) rs200645401
NM_000356.4(TCOF1):c.4209+106G>T rs151344582
NM_000356.4(TCOF1):c.579G>A (p.Ala193=) rs142965998
NM_000356.4(TCOF1):c.640-1981_640-1964del rs528897827
NM_000356.4(TCOF1):c.797G>A (p.Ser266Asn) rs144327167
NM_000356.4(TCOF1):c.855G>A (p.Ala285=) rs151344568
NM_001135244.1(TCOF1):c.-59G>A rs151344563

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