List of variants reported as uncertain significance for partial deletion of the long arm of chromosome 2 by Centogene AG - the Rare Disease Company

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001172509.2(SATB2):c.911C>T (p.Pro304Leu)	rs2105823252
NM_001378120.1(MBD5):c.1256A>G (p.His419Arg)	rs1680702734
NM_001378120.1(MBD5):c.2380G>A (p.Gly794Arg)	rs2105642407
NM_001378120.1(MBD5):c.4963-2A>T	rs2105225632

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