ClinVar Miner

List of variants studied for Lethal acantholytic epidermolysis bullosa by Genome-Nilou Lab

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.1141-44C>T rs2076296 0.77690
NM_004415.4(DSP):c.3084+28G>A rs2842691 0.77273
NM_004415.4(DSP):c.2091A>G (p.Gly697=) rs2076304 0.76849
NM_004415.4(DSP):c.3084+24T>G rs2806229 0.74918
NM_004415.4(DSP):c.2631G>A (p.Arg877=) rs1016835 0.74603
NM_004415.4(DSP):c.8472G>C (p.Gly2824=) rs2744380 0.69057
NM_004415.4(DSP):c.1904-49T>A rs2076303 0.41041
NM_004415.4(DSP):c.7122C>T (p.Thr2374=) rs2076300 0.28306

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