List of variants studied for syndromic intellectual disability by GenomeConnect - Invitae Patient Insights Network

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_152564.5(VPS13B):c.983A>G (p.His328Arg)	rs181625846	0.00053
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn)	rs151001016	0.00030
NM_152564.5(VPS13B):c.1590G>A (p.Met530Ile)	rs200519753	0.00006
NM_152564.5(VPS13B):c.2075G>A (p.Arg692Gln)	rs371500701	0.00006
NM_001376.5(DYNC1H1):c.2869-3C>T	rs750614475	0.00004
NM_001376.5(DYNC1H1):c.13414G>A (p.Gly4472Ser)	rs199692678	0.00001
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val)	rs539739051	0.00001
NM_020987.5(ANK3):c.8746A>G (p.Ile2916Val)	rs375389082	0.00001
NM_001008537.3(NEXMIF):c.3595_3611del (p.Lys1199fs)	rs1556016292
NM_001184880.2(PCDH19):c.1548C>A (p.Tyr516Ter)	rs587784295
NM_001376.5(DYNC1H1):c.13777G>A (p.Val4593Ile)	rs750566844
NM_004380.3(CREBBP):c.2574dup (p.Pro859fs)	rs2141203402
NM_004586.3(RPS6KA3):c.1996C>T (p.Gln666Ter)	rs1603417440
NM_005120.3(MED12):c.1376C>T (p.Thr459Ile)	rs2092292878
NM_005120.3(MED12):c.616C>G (p.Arg206Gly)	rs1556334331
NM_203475.3(PORCN):c.178G>A (p.Gly60Arg)	rs267606973

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