ClinVar Miner

List of variants reported for Seizure by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln) rs115961753 0.00156
NM_016729.3(FOLR1):c.493+2T>C rs144637717 0.00134
NM_001080.3(ALDH5A1):c.13A>G (p.Ile5Val) rs200398000 0.00096
NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys) rs187453572 0.00059
NM_000391.4(TPP1):c.1307T>C (p.Leu436Pro) rs150039898 0.00031
NM_001482.3(GATM):c.160G>A (p.Asp54Asn) rs780777061 0.00017
NM_005670.4(EPM2A):c.743C>T (p.Ala248Val) rs374043005 0.00011
NM_017547.4(FOXRED1):c.1183G>T (p.Val395Phe) rs767749700 0.00011
NM_000925.4(PDHB):c.10G>A (p.Val4Met) rs201470762 0.00010
NM_001191061.2(SLC25A22):c.46G>A (p.Gly16Ser) rs149569043 0.00006
NM_004366.6(CLCN2):c.302T>C (p.Met101Thr) rs546781274 0.00006
NM_001127222.2(CACNA1A):c.4371G>A (p.Thr1457=) rs368100270 0.00004
NM_001378120.1(MBD5):c.4970C>A (p.Pro1657His) rs775673512 0.00004
NM_000079.4(CHRNA1):c.410C>T (p.Thr137Met) rs780391418 0.00003
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591 0.00003
NM_198859.4(PRICKLE2):c.894C>T (p.Leu298=) rs372232760 0.00003
NM_001378120.1(MBD5):c.2789A>C (p.Gln930Pro) rs564759063 0.00002
NM_000744.7(CHRNA4):c.1721T>C (p.Ile574Thr) rs139657121 0.00001
NM_145239.3(PRRT2):c.125C>T (p.Pro42Leu) rs1166053009 0.00001
NM_000368.5(TSC1):c.954GTT[1] (p.Leu320del) rs755655903
NM_000548.5(TSC2):c.687C>G (p.Asn229Lys) rs1555498802
NM_000834.5(GRIN2B):c.2510T>C (p.Ile837Thr) rs1565455844
NM_001126049.2(KLLN):c.-1007C>G rs587780001
NM_001165963.4(SCN1A):c.777C>A (p.Ser259Arg) rs121918735
NM_004519.4(KCNQ3):c.2467G>A (p.Gly823Arg) rs1563761293
NM_198904.4(GABRG2):c.892A>G (p.Lys298Glu) rs1561658609

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