List of variants reported as pathogenic for Intellectual disability; Neurodevelopmental delay

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NC_000017.10:g.(?_55442363)_(56309063_?)del
NC_000017.10:g.(?_55806534)_(56540597_?)del
NM_006924.5(SRSF1):c.119G>T (p.Gly40Val)	rs2509290322
NM_006924.5(SRSF1):c.208G>A (p.Ala70Thr)	rs2509287701
NM_006924.5(SRSF1):c.231T>G (p.Tyr77Ter)	rs911995391
NM_006924.5(SRSF1):c.251T>G (p.Leu84Arg)	rs2509287599
NM_006924.5(SRSF1):c.377_378del (p.Ser126fs)	rs2509287238
NM_006924.5(SRSF1):c.478G>A (p.Val160Met)	rs2509285683
NM_006924.5(SRSF1):c.579dup (p.Val194fs)	rs2509284749
NM_006924.5(SRSF1):c.601del (p.Ser201fs)	rs2509284731
NM_006924.5(SRSF1):c.71C>T (p.Pro24Leu)	rs2143492189
NM_006924.5(SRSF1):c.82C>T (p.Arg28Ter)	rs1477879201
NM_006924.5(SRSF1):c.97G>T (p.Glu33Ter)	rs2509290420

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