List of variants reported as likely pathogenic by Dobyns Lab, Seattle Children's Research Institute

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001349338.3(FOXP1):c.44C>T (p.Ala15Val)	rs532329866	0.00015
NM_018196.4(TMLHE):c.277C>T (p.Arg93Cys)	rs782785654	0.00005
NM_031307.4(PUS3):c.578G>A (p.Arg193Gln)	rs576405108	0.00002
NM_020320.5(RARS2):c.1650+5G>A	rs750433723	0.00001
NM_020320.5(RARS2):c.848T>A (p.Leu283Gln)	rs1258569046	0.00001
NM_031307.4(PUS3):c.497G>A (p.Arg166Gln)	rs200876642	0.00001
NM_001032221.6(STXBP1):c.1004C>T (p.Pro335Leu)	rs398123695
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln)	rs794727970
NM_001367721.1(CASK):c.2156-1G>A	rs1569291261
NM_006009.4(TUBA1A):c.180G>T (p.Lys60Asn)	rs1565627707
NM_012310.5(KIF4A):c.794G>T (p.Arg265Leu)	rs1569234334
NM_014023.4(WDR37):c.374C>T (p.Thr125Ile)	rs1554823375
NM_015570.4(AUTS2):c.1600A>C (p.Thr534Pro)	rs1563183469
NM_017412.4(FZD3):c.1616dup (p.Asp539fs)	rs1563406024

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