ClinVar Miner

List of variants reported as uncertain significance for infantile spasms by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250 0.00073
NM_006279.5(ST3GAL3):c.362G>A (p.Arg121Gln) rs201287443 0.00027
NM_006279.5(ST3GAL3):c.400A>T (p.Asn134Tyr) rs201834329 0.00013
NM_001130438.3(SPTAN1):c.4243G>C (p.Glu1415Gln) rs745697305 0.00010
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser) rs748459878 0.00005
NM_006279.5(ST3GAL3):c.1070A>T (p.Glu357Val) rs141947405 0.00004
NM_000834.5(GRIN2B):c.2845T>C (p.Tyr949His) rs201982602 0.00003
NM_000834.5(GRIN2B):c.3647G>A (p.Arg1216His) rs757636470 0.00002
NM_001130438.3(SPTAN1):c.2720G>T (p.Arg907Leu) rs780303413 0.00002
NM_000330.4(RS1):c.326+1159C>G rs587783160 0.00001
NM_000834.5(GRIN2B):c.2759G>A (p.Ser920Asn) rs781442804 0.00001
NM_001130438.3(SPTAN1):c.1697G>A (p.Arg566Gln) rs370304886 0.00001
NM_001130438.3(SPTAN1):c.2838C>G (p.Ile946Met) rs943636575 0.00001
NM_001130438.3(SPTAN1):c.7256G>A (p.Arg2419Gln) rs772995493 0.00001
NM_001130438.3(SPTAN1):c.776G>A (p.Arg259His) rs772367229 0.00001
NM_001323289.2(CDKL5):c.1196A>C (p.Asn399Thr) rs267608611 0.00001
NM_000834.5(GRIN2B):c.3024C>A (p.Asn1008Lys)
NM_000834.5(GRIN2B):c.3508G>C (p.Gly1170Arg)
NM_000834.5(GRIN2B):c.4307G>C (p.Gly1436Ala) rs1565452616
NM_001130438.3(SPTAN1):c.2158C>G (p.His720Asp)
NM_006279.5(ST3GAL3):c.348G>C (p.Lys116Asn) rs1365012948

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