ClinVar Miner

List of variants reported as uncertain significance for febrile seizures, familial by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846 0.00484
NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=) rs137853918 0.00316
NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr) rs145556097 0.00195
NM_032119.4(ADGRV1):c.3191A>C (p.Glu1064Ala) rs190922596 0.00195
NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val) rs202064612 0.00083
NM_032119.4(ADGRV1):c.2456G>A (p.Ser819Asn) rs182395524 0.00014
NM_032119.4(ADGRV1):c.11338C>T (p.Arg3780Cys) rs201742794 0.00011
NM_032119.4(ADGRV1):c.12032G>T (p.Gly4011Val) rs369044000 0.00001

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