List of variants reported as likely pathogenic for Mosaic variegated aneuploidy syndrome 2

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NC_000011.9:g.(?_95549619)_(95562458_?)del
NM_014679.5(CEP57):c.1402del (p.Lys467_Leu468insTer)	rs1590962541
NM_014679.5(CEP57):c.46-2A>T
NM_014679.5(CEP57):c.622-2A>G
NM_014679.5(CEP57):c.699+1G>T

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