ClinVar Miner

List of variants studied for infantile spasms by 3billion, Medical Genetics

Included ClinVar conditions (18):
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ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_006279.5(ST3GAL3):c.530G>A (p.Arg177Gln) rs780826701 0.00001
NM_000834.5(GRIN2B):c.1237G>C (p.Glu413Gln) rs1555112356
NM_000834.5(GRIN2B):c.1927C>A (p.Leu643Met)
NM_000834.5(GRIN2B):c.1946A>G (p.Asn649Ser) rs879253945
NM_000834.5(GRIN2B):c.1963A>G (p.Ile655Val) rs1949320223
NM_000834.5(GRIN2B):c.2198C>A (p.Ala733Glu)
NM_001130438.3(SPTAN1):c.3414+4T>C rs794727389
NM_001130438.3(SPTAN1):c.3781T>C (p.Tyr1261His)
NM_001130438.3(SPTAN1):c.5044G>A (p.Val1682Met) rs2131703648
NM_001130438.3(SPTAN1):c.6155A>G (p.Lys2052Arg) rs2131953509
NM_001130438.3(SPTAN1):c.6199A>G (p.Met2067Val)
NM_001130438.3(SPTAN1):c.6494T>C (p.Phe2165Ser) rs1589389281
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter) rs267608643
NM_001323289.2(CDKL5):c.170_177del (p.Thr57fs)
NM_001323289.2(CDKL5):c.236T>C (p.Phe79Ser) rs2147139630
NM_001323289.2(CDKL5):c.350dup (p.Tyr117Ter)
NM_001323289.2(CDKL5):c.436A>G (p.Asn146Asp) rs2147144038
NM_001323289.2(CDKL5):c.46C>G (p.Leu16Val)
NM_001323289.2(CDKL5):c.507dup (p.Glu170fs)
NM_001323289.2(CDKL5):c.599T>A (p.Ile200Asn) rs2147148013
NM_001323289.2(CDKL5):c.656A>G (p.Gln219Arg)
NM_006279.5(ST3GAL3):c.401A>G (p.Asn134Ser) rs745451424

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