ClinVar Miner

List of variants studied for infantile spasms by Baylor Genetics

Included ClinVar conditions (18):
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Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_021927.3(GUF1):c.1934A>G (p.Lys645Arg) rs139919081 0.00047
NM_021927.3(GUF1):c.1954G>A (p.Val652Ile) rs201662175 0.00009
NM_006279.5(ST3GAL3):c.166+1G>A rs148531289 0.00002
NM_001130438.3(SPTAN1):c.4133T>C (p.Leu1378Pro) rs776728710 0.00001
NM_001323289.2(CDKL5):c.1676G>A (p.Arg559Gln) rs1926294168 0.00001
NM_001323289.2(CDKL5):c.743G>A (p.Arg248Gln) rs1064795857 0.00001
NM_003159.3(CDKL5):c.2809_2810insA (p.Cys937Ter) rs1158418673 0.00001
NM_006279.5(ST3GAL3):c.303-9A>G rs762536905 0.00001
NM_006279.5(ST3GAL3):c.631G>A (p.Glu211Lys) rs1448699021 0.00001
NM_000834.5(GRIN2B):c.1628_1633del (p.Gly543_Thr544del)
NM_000834.5(GRIN2B):c.1937A>G (p.Tyr646Cys) rs1565474582
NM_000834.5(GRIN2B):c.2273_2281del (p.Ala758_Thr760del) rs1565457062
NM_000834.5(GRIN2B):c.2450A>G (p.Asn817Ser) rs1555103159
NM_000834.5(GRIN2B):c.2452A>G (p.Met818Val)
NM_000834.5(GRIN2B):c.3388C>T (p.Arg1130Trp) rs1320154351
NM_000834.5(GRIN2B):c.3646C>T (p.Arg1216Cys) rs199834850
NM_000834.5(GRIN2B):c.4307G>C (p.Gly1436Ala) rs1565452616
NM_001130438.3(SPTAN1):c.1972A>C (p.Ser658Arg)
NM_001130438.3(SPTAN1):c.2422G>T (p.Ala808Ser) rs766491965
NM_001130438.3(SPTAN1):c.3775G>A (p.Asp1259Asn) rs1855652617
NM_001130438.3(SPTAN1):c.3991C>A (p.Arg1331Ser) rs1407200590
NM_001130438.3(SPTAN1):c.4350C>A (p.Phe1450Leu)
NM_001130438.3(SPTAN1):c.5567_5568del (p.His1856fs)
NM_001130438.3(SPTAN1):c.6661G>A (p.Ala2221Thr) rs1858943245
NM_001130438.3(SPTAN1):c.7160+5_7160+9del rs747442396
NM_001323289.2(CDKL5):c.2375C>G (p.Thr792Arg)
NM_001323289.2(CDKL5):c.2828_2829del (p.Arg943fs) rs1555955290
NM_001323289.2(CDKL5):c.409A>G (p.Lys137Glu) rs1569214324
NM_001323289.2(CDKL5):c.454T>C (p.Cys152Arg) rs1602272932
NM_001323289.2(CDKL5):c.818T>C (p.Leu273Pro) rs1569217205
NM_001323289.2(CDKL5):c.868C>T (p.Gln290Ter) rs1569218019

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