ClinVar Miner

List of variants reported as benign for Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_203446.3(SYNJ1):c.884A>G (p.Lys295Arg) rs2254562 0.29094
NM_203446.3(SYNJ1):c.3518-7G>T rs2833929 0.28042
NM_203446.3(SYNJ1):c.3588+14C>T rs11702774 0.16837
NM_203446.3(SYNJ1):c.1201-3A>T rs844988 0.08382
NM_203446.3(SYNJ1):c.3721C>T (p.Leu1241=) rs2230766 0.07370
NM_203446.3(SYNJ1):c.479+9A>G rs76502784 0.03297
NM_203446.3(SYNJ1):c.3915+5G>T rs61750220 0.01369
NM_203446.3(SYNJ1):c.*329G>A rs61750217 0.00954
NM_203446.3(SYNJ1):c.*611C>T rs76056543 0.00609
NM_203446.3(SYNJ1):c.1119-8G>T rs138882423 0.00462
NM_203446.3(SYNJ1):c.6G>A (p.Ala2=) rs61750221 0.00452
NM_203446.3(SYNJ1):c.43C>T (p.Pro15Ser) rs61755328 0.00441
NM_203446.3(SYNJ1):c.573A>G (p.Thr191=) rs61756694 0.00406
NM_203446.3(SYNJ1):c.2943G>T (p.Met981Ile) rs115683257 0.00245
NM_203446.3(SYNJ1):c.*315G>A rs145347648 0.00241
NM_203446.3(SYNJ1):c.1546G>A (p.Val516Ile) rs113708828 0.00230
NM_203446.3(SYNJ1):c.3369A>G (p.Pro1123=) rs368850131 0.00183
NM_203446.3(SYNJ1):c.*732C>T rs148676465 0.00068
NM_203446.3(SYNJ1):c.706-11T>C rs150213884 0.00049
NM_203446.3(SYNJ1):c.705+7A>G rs187016397 0.00040
NM_203446.3(SYNJ1):c.*186_*187insAATAC rs869265580 0.00037
NM_203446.3(SYNJ1):c.1081T>A (p.Tyr361Asn) rs533216340 0.00032
NM_203446.3(SYNJ1):c.-23+15G>A rs546859861 0.00018
NM_203446.3(SYNJ1):c.3697+10C>G rs548819939 0.00016
NM_203446.3(SYNJ1):c.1182G>A (p.Gln394=) rs540183181 0.00010
NM_203446.3(SYNJ1):c.2691G>A (p.Leu897=) rs115263361 0.00008
NM_203446.3(SYNJ1):c.*690G>A rs559102258 0.00005
NM_203446.3(SYNJ1):c.1914G>A (p.Leu638=) rs534908601 0.00004
NM_203446.3(SYNJ1):c.2226T>A (p.Val742=) rs566533509 0.00003
NM_203446.3(SYNJ1):c.1971T>C (p.Thr657=) rs574400482 0.00001
NM_203446.3(SYNJ1):c.3601C>T (p.Arg1201Cys) rs114994257 0.00001
NM_203446.3(SYNJ1):c.*186_*187insAATACT rs57257560
NM_203446.3(SYNJ1):c.125-6_125-5del rs769191151
NM_203446.3(SYNJ1):c.1510+13T>A rs75688000
NM_203446.3(SYNJ1):c.1510+16_1510+17del rs138729271
NM_203446.3(SYNJ1):c.1812-16del
NM_203446.3(SYNJ1):c.3247+11del
NM_203446.3(SYNJ1):c.3479-18del rs555916409
NM_203446.3(SYNJ1):c.3479-18dup
NM_203446.3(SYNJ1):c.3698-3del
NM_203446.3(SYNJ1):c.706-7del rs202044634
NM_203446.3(SYNJ1):c.706-7dup rs202044634
NM_203446.3(SYNJ1):c.949-9del rs776238595

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