ClinVar Miner

List of variants reported as likely pathogenic for electroclinical syndrome by Génétique des Maladies du Développement, Hospices Civils de Lyon

Included ClinVar conditions (101):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000814.6(GABRB3):c.758C>T (p.Pro253Leu)
NM_001037343.1:c.100-?_744+?dup
NM_001040142.2(SCN2A):c.5131A>G (p.Thr1711Ala)
NM_001040142.2(SCN2A):c.5231G>A (p.Gly1744Glu)
NM_001040142.2(SCN2A):c.5306A>G (p.Asn1769Ser)
NM_001040142.2(SCN2A):c.685T>A (p.Ser229Thr) rs1553567561
NM_001134407.3(GRIN2A):c.1373G>A (p.Gly458Glu)
NM_001134407.3(GRIN2A):c.1946_1947delinsCT (p.Leu649Pro)
NM_001134407.3(GRIN2A):c.2007+1G>T
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
NM_001271.4(CHD2):c.2612G>A (p.Gly871Asp)
NM_001271.4(CHD2):c.2707A>G (p.Arg903Gly)
NM_001271.4(CHD2):c.3112C>T (p.Arg1038Cys)
NM_001271.4(CHD2):c.4109A>G (p.Asp1370Gly) rs2141871764
NM_001323289.2(CDKL5):c.135G>C (p.Lys45Asn) rs1602263431
NM_001323289.2(CDKL5):c.394G>T (p.Val132Phe) rs1569213917
NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His)
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
NM_145239.3(PRRT2):c.835C>G (p.Pro279Ala)
NM_172107.4(KCNQ2):c.1638G>A (p.Met546Ile) rs2080191127
NM_172107.4(KCNQ2):c.1663T>C (p.Phe555Leu)
NM_172107.4(KCNQ2):c.388-2A>G rs2145779858
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
NM_172107.4(KCNQ2):c.955A>G (p.Lys319Glu) rs2145712576
NM_198904.4(GABRG2):c.259+5G>T rs2113298784

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