ClinVar Miner

List of variants studied for Burn-McKeown syndrome by OMIM

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Total variants: 6
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HGVS dbSNP
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_006701.4(TXNL4A):c.258_429del172 (p.Asn87Alafs)

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