List of variants studied for Syndromic X-linked intellectual disability Shashi type

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_002139.4(RBMX):c.997G>T (p.Asp333Tyr)	rs148934011	0.00031
NM_002139.4(RBMX):c.389-8T>C	rs181515589	0.00011
NM_002139.4(RBMX):c.217-2dup	rs746388350	0.00001
NM_002139.4(RBMX):c.287C>T (p.Pro96Leu)	rs770292839	0.00001
NM_002139.4(RBMX):c.296C>T (p.Pro99Leu)	rs1241455828	0.00001
NM_002139.4(RBMX):c.-1C>A	rs2011584
NM_002139.4(RBMX):c.101T>C (p.Ile34Thr)	rs2148714108
NM_002139.4(RBMX):c.1031G>A (p.Arg344Lys)
NM_002139.4(RBMX):c.1037_1059del (p.Glu346fs)	rs2522753214
NM_002139.4(RBMX):c.591A>G (p.Glu197=)	rs1261521581

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