ClinVar Miner

List of variants reported as uncertain significance for West syndrome by Revvity Omics, Revvity

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_173354.5(SIK1):c.2159C>T (p.Pro720Leu) rs547049916 0.00032
NM_021927.3(GUF1):c.514C>G (p.Gln172Glu) rs116300982 0.00014
NM_173354.5(SIK1):c.1604C>T (p.Pro535Leu) rs373576665 0.00010
NM_173354.5(SIK1):c.1055A>G (p.Gln352Arg) rs767076281 0.00005
NM_000330.4(RS1):c.185-3221G>C rs374054249 0.00004
NM_015192.4(PLCB1):c.2564C>T (p.Ala855Val) rs201764744 0.00004
NM_015192.4(PLCB1):c.3059G>A (p.Arg1020Gln) rs758283980 0.00002
NM_173354.5(SIK1):c.1456G>A (p.Ala486Thr) rs1225191975 0.00001
NM_001323289.2(CDKL5):c.1803C>G (p.Pro601=)
NM_001323289.2(CDKL5):c.2157A>G (p.Pro719=)
NM_001323289.2(CDKL5):c.2332G>A (p.Gly778Arg)
NM_001323289.2(CDKL5):c.2422A>G (p.Ile808Val)
NM_001323289.2(CDKL5):c.388_390del (p.Asp130del)
NM_015192.4(PLCB1):c.1232T>C (p.Phe411Ser)
NM_015192.4(PLCB1):c.3394C>T (p.Arg1132Cys)
NM_015192.4(PLCB1):c.437T>C (p.Met146Thr)
NM_021927.3(GUF1):c.1250T>A (p.Leu417Gln)
NM_173354.5(SIK1):c.1433C>T (p.Ser478Phe)
NM_173354.5(SIK1):c.1463G>A (p.Cys488Tyr) rs769962713
NM_173354.5(SIK1):c.2059G>T (p.Ala687Ser)
NM_173354.5(SIK1):c.2152G>A (p.Ala718Thr)
NM_173354.5(SIK1):c.580G>A (p.Val194Ile) rs367965361

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