ClinVar Miner

List of variants reported as likely pathogenic for West syndrome by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000834.5(GRIN2B):c.2197G>C (p.Ala733Pro) rs2136413399
NM_000834.5(GRIN2B):c.2470A>G (p.Met824Val)
NM_001130438.3(SPTAN1):c.3716A>G (p.His1239Arg) rs1554756114
NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp) rs1131691643
NM_001130438.3(SPTAN1):c.5326C>T (p.Arg1776Trp) rs1232614751
NM_001130438.3(SPTAN1):c.533G>A (p.Gly178Asp) rs2130975930
NM_001130438.3(SPTAN1):c.6184C>T (p.Arg2062Trp) rs2131953982
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del) rs587784438
NM_001130438.3(SPTAN1):c.6622_6624del (p.Asn2208del) rs2131985621
NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys) rs1859859572
NM_001130438.3(SPTAN1):c.6850_6852del (p.Asp2284del) rs2132088836
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1]) rs587784440
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001130438.3(SPTAN1):c.6910_6918del (p.Gln2304_Gly2306del) rs796053334
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup) rs796053335
NM_001130438.3(SPTAN1):c.917C>T (p.Ala306Val) rs2131012797
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001323289.2(CDKL5):c.2047-2A>C rs1926471092
NM_001323289.2(CDKL5):c.530_535del (p.Tyr177_Arg178del)
NM_001323289.2(CDKL5):c.601del (p.Glu203fs) rs1925697105
NM_001323289.2(CDKL5):c.64G>A (p.Gly22Arg) rs1922607139
NM_001323289.2(CDKL5):c.71A>G (p.Tyr24Cys) rs1922801133
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys) rs104894746
NM_139058.3(ARX):c.989G>A (p.Arg330His) rs886039308

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