ClinVar Miner

List of variants reported as likely benign for Treacher Collins syndrome 1 by Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001371623.1(TCOF1):c.579G>A (p.Ala193=) rs142965998 0.00558
NM_001371623.1(TCOF1):c.1281G>A (p.Ala427=) rs113299143 0.00291
NM_001371623.1(TCOF1):c.2859+3389G>T rs151344575 0.00196
NM_001371623.1(TCOF1):c.1028G>A (p.Ser343Asn) rs144327167 0.00188
NM_001371623.1(TCOF1):c.109-28T>C rs144149485 0.00168
NM_001135244.1(TCOF1):c.-59G>A rs151344563 0.00146
NM_001371623.1(TCOF1):c.2859+26A>G rs151344574 0.00120
NM_001371623.1(TCOF1):c.3945A>C (p.Ser1315=) rs146509895 0.00014
NM_001371623.1(TCOF1):c.1854G>A (p.Ala618=) rs151344570 0.00006
NM_001371623.1(TCOF1):c.2142+22C>T rs151344572 0.00004
NM_001371623.1(TCOF1):c.1242C>T (p.Ser414=) rs151344569 0.00003
NM_001371623.1(TCOF1):c.1953T>C (p.Thr651=) rs151344571 0.00002
NM_001371623.1(TCOF1):c.3603+64dup rs151344577 0.00002
NM_001371623.1(TCOF1):c.1086G>A (p.Ala362=) rs151344568 0.00001
NM_001371623.1(TCOF1):c.3784+8A>G rs151344578 0.00001
NM_001371623.1(TCOF1):c.4443+106G>T rs151344582 0.00001
NM_001371623.1(TCOF1):c.108+62_108+68del rs151344564
NM_001371623.1(TCOF1):c.3531C>T (p.Pro1177=) rs149395927
NM_001371623.1(TCOF1):c.4298_4299delinsGA (p.Asp1433Gly) rs151344580

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