ClinVar Miner

List of variants reported as uncertain significance for febrile seizures, familial by New York Genome Center

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009 0.00239
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949 0.00121
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp) rs121917973 0.00008
NM_020361.5(CPA6):c.127A>G (p.Ile43Val) rs766547893 0.00003
NM_001165963.4(SCN1A):c.3889G>A (p.Val1297Ile) rs1260685558 0.00002
NM_032119.4(ADGRV1):c.259A>G (p.Ile87Val) rs1763564700 0.00001
NM_032119.4(ADGRV1):c.323C>G (p.Pro108Arg) rs1158908533 0.00001
NC_000005.10:g.90904210_91123767del
NM_001165963.4(SCN1A):c.-142G>A rs2106003538
NM_001165963.4(SCN1A):c.1436T>C (p.Leu479Pro) rs1697679015
NM_001165963.4(SCN1A):c.4234A>G (p.Lys1412Glu) rs1553524977
NM_001165963.4(SCN1A):c.4888G>A (p.Val1630Met) rs121917914
NM_020361.5(CPA6):c.117-25562dup rs996734526
NM_020361.5(CPA6):c.192+29464G>T rs2128981874
NM_020361.5(CPA6):c.20G>T (p.Arg7Leu) rs373565150
NM_020361.5(CPA6):c.757T>G (p.Trp253Gly) rs781369203
NM_032119.4(ADGRV1):c.15212A>G (p.Glu5071Gly) rs1762337320
NM_032119.4(ADGRV1):c.15415G>C (p.Glu5139Gln) rs776241274
NM_032119.4(ADGRV1):c.22+25188A>C rs1758425024
NM_032119.4(ADGRV1):c.6556C>G (p.Pro2186Ala) rs1357549892
NM_198904.4(GABRG2):c.428G>A (p.Gly143Glu) rs747372679

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