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

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln)	rs775162839	0.00006
NM_152268.4(PARS2):c.283G>A (p.Val95Ile)	rs147227819	0.00005
NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp)	rs564185858	0.00001
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln)	rs794727152
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val)	rs387906686
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)	rs28934904
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)	rs61750240
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)	rs28935468
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)	rs1057520918
NM_001330260.2(SCN8A):c.5615G>A (p.Arg1872Gln)	rs796053229
NM_005249.5(FOXG1):c.256del (p.Gln86fs)	rs786205001
NM_005458.8(GABBR2):c.2077G>T (p.Gly693Trp)	rs1554689320
NM_014334.4(FRRS1L):c.808C>T (p.Gln270Ter)	rs878853280
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup)	rs387906492
NM_152743.4(BRAT1):c.638dup (p.Val214fs)	rs730880324
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp)	rs759584387
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln)	rs796052618

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