ClinVar Miner

List of variants reported as pathogenic for West syndrome by Mendelics

Included ClinVar conditions (23):
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ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000330.4(RS1):c.522+5G>A rs200074383 0.00004
NM_173354.5(SIK1):c.1897C>T (p.Gln633Ter) rs786205162 0.00001
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001130438.3(SPTAN1):c.6905_6946dup (p.Leu2302_Gln2315dup) rs2132089818
NM_001323289.2(CDKL5):c.1431_1435dup (p.Ser479fs) rs1602286391
NM_001323289.2(CDKL5):c.145+1G>A rs2147132274
NM_001323289.2(CDKL5):c.1548C>A (p.Tyr516Ter) rs751789670
NM_001323289.2(CDKL5):c.1742dup (p.His581fs) rs1602286792
NM_001323289.2(CDKL5):c.1816C>T (p.Gln606Ter) rs1602286899
NM_001323289.2(CDKL5):c.2480C>G (p.Ser827Ter) rs1602298653
NM_001323289.2(CDKL5):c.2716C>T (p.Gln906Ter) rs863225289
NM_001323289.2(CDKL5):c.280A>T (p.Lys94Ter) rs2147139684
NM_001323289.2(CDKL5):c.349_352del (p.Tyr117fs) rs2147142645
NM_001323289.2(CDKL5):c.353A>G (p.Gln118Arg) rs863225290
NM_001323289.2(CDKL5):c.364G>A (p.Ala122Thr) rs1602271692
NM_001323289.2(CDKL5):c.386del (p.Asn129fs) rs1602271718
NM_001323289.2(CDKL5):c.425T>G (p.Leu142Ter) rs267608477
NM_001323289.2(CDKL5):c.620G>T (p.Gly207Val) rs2147148055
NM_001323289.2(CDKL5):c.906del (p.Leu303fs) rs2147156191
NM_001323289.2(CDKL5):c.978-1G>A rs2147160087
NM_016373.4(WWOX):c.107+1G>A rs1300924648
NM_016373.4(WWOX):c.705dup (p.His236fs) rs1597216056
NM_139058.3(ARX):c.1369_1391del (p.Gly457fs) rs1601946502
NM_139058.3(ARX):c.1414_1428del (p.Arg472_Phe476del) rs1601946492

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