ClinVar Miner

List of variants reported by Wilkie Group, Clinical Genetics Lab, WIMM, University of Oxford

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001271938.2(MEGF8):c.7327C>T (p.Arg2443Cys) rs766886630 0.00002
NM_001271938.2(MEGF8):c.4697G>A (p.Arg1566His) rs397515427 0.00001
GRCh38/hg38 19q13.2(chr19:41987984-42252574)x1
GRCh38/hg38 19q13.2(chr19:42198610-42249880)x1
NC_000001.11:g.12617576_12621501del
NC_000019.10:g.41952441_42266625del
NC_000019.10:g.41983952_42247520del
NC_000019.10:g.42032860_42297536del
NC_000019.10:g.42227530_42259211del
NM_001271938.2(MEGF8):c.2499+1G>A
NM_001271938.2(MEGF8):c.5844+1G>A
NM_001271938.2(MEGF8):c.7269+5G>A
NM_001271938.2(MEGF8):c.7948GTCTTCTTCTCC[1] (p.2650VFFS[1]) rs2514360670
NM_001271938.2(MEGF8):c.7961TCT[2] (p.Phe2656del) rs2514360725
NM_001271938.2(MEGF8):c.7992_7995del (p.Leu2665fs) rs2514360779
NM_001271938.2(MEGF8):c.8338G>A (p.Val2780Met)
NM_001271938.2(MEGF8):c.878T>C (p.Leu293Pro)
NM_004753.7(DHRS3):c.328G>A (p.Val110Ile)
NM_004753.7(DHRS3):c.344G>A (p.Gly115Asp)
NM_004753.7(DHRS3):c.511G>A (p.Val171Met)
NM_004753.7(DHRS3):c.730G>C (p.Glu244Gln)

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