ClinVar Miner

List of variants in gene TCOF1 reported as likely benign for Treacher-Collins syndrome 1

Included ClinVar conditions (2):
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Gene type:
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Total variants: 23
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HGVS dbSNP
NM_000356.3(TCOF1):c.3297C>T (p.Pro1099=) rs149395927
NM_000356.3(TCOF1):c.3369+64dupT rs151344577
NM_000356.3(TCOF1):c.3550+8A>G rs151344578
NM_000356.3(TCOF1):c.3711A>C (p.Ser1237=) rs146509895
NM_000356.3(TCOF1):c.4064_4065delATinsGA (p.Asp1355Gly) rs151344580
NM_000356.3(TCOF1):c.4209+106G>T rs151344582
NM_001135243.1(TCOF1):c.2766G>A (p.Ser922=) rs369562565
NM_001135243.1(TCOF1):c.4020G>A (p.Lys1340=) rs199890846
NM_001135243.1(TCOF1):c.4385A>G (p.Lys1462Arg) rs200645401
NM_001135243.1(TCOF1):c.827_844del18 (p.Gly276_Glu281del) rs528897827
NM_001135244.1(TCOF1):c.-59G>A rs151344563
NM_001135244.1(TCOF1):c.1028G>A (p.Ser343Asn) rs144327167
NM_001135244.1(TCOF1):c.108+62_108+68del rs151344564
NM_001135244.1(TCOF1):c.1086G>A (p.Ala362=) rs151344568
NM_001135244.1(TCOF1):c.109-28T>C rs144149485
NM_001135244.1(TCOF1):c.1242C>T (p.Ser414=) rs151344569
NM_001135244.1(TCOF1):c.1281G>A (p.Ala427=) rs113299143
NM_001135244.1(TCOF1):c.1854G>A (p.Ala618=) rs151344570
NM_001135244.1(TCOF1):c.1953T>C (p.Thr651=) rs151344571
NM_001135244.1(TCOF1):c.2142+22C>T rs151344572
NM_001135244.1(TCOF1):c.2859+26A>G rs151344574
NM_001135244.1(TCOF1):c.2859+3389G>T rs151344575
NM_001135244.1(TCOF1):c.579G>A (p.Ala193=) rs142965998

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