ClinVar Miner

List of variants reported as pathogenic for Subcortical laminar heterotopia, X-linked by OMIM

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001195553.2(DCX):c.587G>A (p.Arg196His) rs56030372 0.00001
NM_001195553.2(DCX):c.139A>C (p.Ser47Arg) rs104894783
NM_001195553.2(DCX):c.176G>T (p.Arg59Leu) rs122457137
NM_001195553.2(DCX):c.184G>A (p.Asp62Asn) rs104894779
NM_001195553.2(DCX):c.211G>T (p.Ala71Ser) rs104894786
NM_001195553.2(DCX):c.233G>A (p.Arg78His) rs104894784
NM_001195553.2(DCX):c.265C>G (p.Arg89Gly) rs104894785
NM_001195553.2(DCX):c.34_35dup (p.Asp12fs) rs1569498597
NM_001195553.2(DCX):c.373T>C (p.Tyr125His) rs104894781
NM_001195553.2(DCX):c.574C>T (p.Arg192Trp) rs104894780
NM_001195553.2(DCX):c.608C>G (p.Thr203Arg) rs104894782
NM_001195553.2(DCX):c.684_685del (p.Tyr229fs) rs1556401744
NM_001195553.2(DCX):c.691_692del (p.Leu231fs) rs1569497266
NM_001195553.2(DCX):c.808+1G>A rs1921403332

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