List of variants reported as likely pathogenic for chromosomal disorder by Centogene AG - the Rare Disease Company

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001110792.2(MECP2):c.1440dup (p.Pro481fs)	rs2065902096
NM_001372044.2(SHANK3):c.2324+1del	rs2146817773
NM_002397.5(MEF2C):c.402+184del	rs2152669802
NM_019066.5(MAGEL2):c.1808C>G (p.Ser603Ter)	rs1595332731
NM_033517.1(SHANK3):c.3679del (p.Ala1227fs)	rs762292772

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