ClinVar Miner

List of variants reported as pathogenic for Burn-McKeown syndrome

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Total variants: 18
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HGVS dbSNP
Multiple alleles
NC_000018.9(TXNL4A):g.77748604_77748637del34 rs786205699
NC_000018.9:g.73376178_78077248del4701071
NC_000018.9:g.76841645_78077248del1235604
NC_000018.9:g.76854774_78077248del1222475
NC_000018.9:g.77421290_77904990del483701
NC_000018.9:g.77733765C>A rs727502793
NC_000018.9:g.77748262delA rs727502795
NC_000018.9:g.77748356G>A rs727502794
NC_000018.9:g.77748581_77748614del34 rs535089924
NM_001305563.1(TXNL4A):c.-60-10914_-60-10880del
NM_001305563.2(TXNL4A):c.[-60-10561del];[-60-10913_-60-10880del]
NM_001305563.2(TXNL4A):c.[-60-10655C>T];[-60-10913_-60-10880del]
NM_001305563.2(TXNL4A):c.[-60-10913_-60-10880del];[136G>T]
NM_006701.2:c.Exon 3 deletion
NM_006701.4(TXNL4A):c.258_429del172 (p.Asn87Alafs)
NM_006701.5(TXNL4A):c.153+3A>G rs879255559
NM_006701.5(TXNL4A):c.154-959_257+638del

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