ClinVar Miner

List of variants studied for West syndrome by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001130438.3(SPTAN1):c.4046G>A (p.Arg1349Gln) rs149367932 0.00006
NM_001130438.3(SPTAN1):c.7378G>A (p.Glu2460Lys) rs200531434 0.00003
NM_001130438.3(SPTAN1):c.511A>G (p.Ile171Val) rs771906889 0.00002
NM_001323289.2(CDKL5):c.2408C>T (p.Thr803Met) rs1005844306 0.00002
NM_001323289.2(CDKL5):c.403+5G>A rs1342864362 0.00001
NM_000330.4(RS1):c.185-3221G>A rs374054249
NM_001130438.3(SPTAN1):c.1456C>G (p.Gln486Glu) rs1455085342
NM_001130438.3(SPTAN1):c.3196A>G (p.Met1066Val) rs764844675
NM_001130438.3(SPTAN1):c.364-3C>G rs1851102695
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup) rs796053335
NM_173354.5(SIK1):c.1430T>G (p.Val477Gly) rs2081044918

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