ClinVar Miner

List of variants reported as not provided for infancy electroclinical syndrome

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594 0.00016
NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly) rs121918802 0.00016
NM_001099922.3(ALG13):c.1831C>T (p.Leu611Phe) rs199505558 0.00005
NM_145239.3(PRRT2):c.773G>A (p.Gly258Glu) rs560303559 0.00005
NM_203446.3(SYNJ1):c.2250T>A (p.Asn750Lys) rs570501803 0.00005
NM_001037.5(SCN1B):c.388G>A (p.Glu130Lys) rs1351632820 0.00001
NM_000834.5(GRIN2B):c.2438T>C (p.Leu813Pro)
NM_001040142.2(SCN2A):c.208C>G (p.Pro70Ala)
NM_001040142.2(SCN2A):c.2767T>C (p.Trp923Arg) rs1057524573
NM_001040142.2(SCN2A):c.3671_3674dup (p.Ala1226fs)
NM_001040142.2(SCN2A):c.4264A>G (p.Lys1422Glu) rs796053137
NM_001040142.2(SCN2A):c.4801G>T (p.Val1601Leu) rs1553463140
NM_001040142.2(SCN2A):c.5272A>C (p.Ser1758Arg) rs1064794005
NM_001040142.2(SCN2A):c.593T>A (p.Val198Asp) rs1697272829
NM_001130438.3(SPTAN1):c.7267_7268delinsAA (p.Ser2423Lys) rs1860016560
NM_001271.4(CHD2):c.3702A>C (p.Lys1234Asn)
NM_001323289.2(CDKL5):c.59G>T (p.Gly20Val) rs786204962
NM_001330260.2(SCN8A):c.3942+2_3942+5dup rs764867016
NM_001330260.2(SCN8A):c.632T>G (p.Val211Gly) rs1592380834
NM_001353921.2(ARHGEF9):c.1107_1108insT (p.Lys370Ter) rs2147218877
NM_001353921.2(ARHGEF9):c.1115G>A (p.Arg372His) rs2048831313
NM_003159.3(CDKL5):c.2921T>C (p.Met974Thr) rs2147197846
NM_004408.4(DNM1):c.1335+1638G>A rs747079285
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln) rs786205232
NM_031844.3(HNRNPU):c.353C>A (p.Ser118Ter) rs1057524584
NM_139058.3(ARX):c.441_455dup (p.Ala151_Ala155dup) rs750585274
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_172107.4(KCNQ2):c.584_593delinsA (p.Ser195_Arg198delinsTer) rs118192197

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