ClinVar Miner

List of variants reported as likely benign for Treacher-Collins syndrome by Invitae

Included ClinVar conditions (5):
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)
NM_001371623.1(TCOF1):c.1361C>T (p.Ala454Val)
NM_001371623.1(TCOF1):c.1390G>A (p.Ala464Thr)
NM_001371623.1(TCOF1):c.1552G>A (p.Gly518Arg)
NM_001371623.1(TCOF1):c.1723A>G (p.Ile575Val)
NM_001371623.1(TCOF1):c.2000G>C (p.Arg667Pro)
NM_001371623.1(TCOF1):c.2248A>G (p.Thr750Ala)
NM_001371623.1(TCOF1):c.2332C>T (p.Pro778Ser)
NM_001371623.1(TCOF1):c.2395G>T (p.Ala799Ser)
NM_001371623.1(TCOF1):c.3827G>A (p.Arg1276Gln)
NM_001371623.1(TCOF1):c.651A>G (p.Ser217=)
NM_001371623.1(TCOF1):c.866G>A (p.Ser289Asn)

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