ClinVar Miner

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
NM_003165.4(STXBP1):c.1004C>T (p.Pro335Leu) rs398123695
NM_003165.4(STXBP1):c.704G>A (p.Arg235Gln) rs794727970
NM_003688.3(CASK):c.2156-16G>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
NM_018196.4(TMLHE):c.277C>T (p.Arg93Cys) rs782785654
NM_020320.5(RARS2):c.1650+5G>A rs750433723
NM_020320.5(RARS2):c.848T>A (p.Leu283Gln) rs1258569046
NM_031307.4(PUS3):c.497G>A (p.Arg166Gln) rs200876642
NM_031307.4(PUS3):c.578G>A (p.Arg193Gln) rs576405108
NM_032682.5(FOXP1):c.44C>T (p.Ala15Val) rs532329866

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