List of variants reported as pathogenic by TIDEX, University of British Columbia

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser)	rs267607115	0.00001
NM_000533.5(PLP1):c.384_393del (p.Gln129fs)	rs1556267215
NM_001029896.2(WDR45):c.697C>T (p.Arg233Ter)	rs387907329
NM_001110792.2(MECP2):c.377_385del (p.Gly126_Ser128del)	rs1557137675
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)	rs28934908
NM_001199267.2(DGKZ):c.162-921dup	rs770590945
NM_006087.4(TUBB4A):c.763G>A (p.Val255Ile)	rs767399782
NM_015338.6(ASXL1):c.3202C>T (p.Arg1068Ter)	rs764651405
NM_024757.5(EHMT1):c.1434_1435del (p.Tyr479fs)	rs1554867189
NM_033453.4(ITPA):c.359_366dup (p.Gly123fs)	rs1407446171
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His)	rs606231435
NM_153704.6(TMEM67):c.439C>T (p.Gln147Ter)	rs1554615516

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