ClinVar Miner

List of variants reported by Service de genetique medicale, Pr. Levy, Hopital de La Timone Enfants, APHM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 12p11.21(chr12:32717818-32778686)x4
NC_000008.9:g.(75248716_75262617)_(75559358_75586021)del
NC_000009.11:g.(130264298_130265053)_(130265271_?)del
NC_000016.9:g.(81367334_81379355)_(81401689_81410823)del
NM_022041.4(GAN):c.890C>T (p.Pro297Leu)	rs771785420

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