ClinVar Miner

List of variants reported as likely pathogenic for Heterotopia

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Total variants: 19
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HGVS dbSNP
NM_178152.3(DCX):c.167G>C (p.Arg56Pro) rs587783525
NM_178152.3(DCX):c.170T>G (p.Phe57Cys) rs587783526
NM_178152.3(DCX):c.185A>G (p.Asp62Gly) rs587783528
NM_178152.3(DCX):c.187C>T (p.Arg63Cys) rs587783529
NM_178152.3(DCX):c.191A>G (p.Tyr64Cys) rs587783530
NM_178152.3(DCX):c.195C>A (p.Phe65Leu) rs587783531
NM_178152.3(DCX):c.226C>T (p.Arg76Cys) rs587783534
NM_178152.3(DCX):c.299G>A (p.Gly100Glu) rs587783538
NM_178152.3(DCX):c.337A>T (p.Ile113Phe) rs587783542
NM_178152.3(DCX):c.377T>A (p.Val126Asp) rs587783546
NM_178152.3(DCX):c.380G>A (p.Cys127Tyr) rs587783547
NM_178152.3(DCX):c.551T>A (p.Ile184Asn) rs587783561
NM_178152.3(DCX):c.571C>A (p.Pro191Thr) rs587783565
NM_178152.3(DCX):c.596T>C (p.Leu199Pro) rs587783569
NM_178152.3(DCX):c.614A>T (p.His205Leu) rs587783572
NM_178152.3(DCX):c.688A>C (p.Thr230Pro) rs587783581
NM_178152.3(DCX):c.724T>A (p.Phe242Ile) rs587783582
NM_178152.3(DCX):c.746T>G (p.Phe249Cys) rs587783584
NM_178152.3(DCX):c.773G>C (p.Arg258Pro) rs587783587

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