ClinVar Miner

List of variants in gene SYNJ1 reported by Athena Diagnostics Inc

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Total variants: 26
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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.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.*728C>T rs2230767 0.00284
NM_203446.3(SYNJ1):c.1030G>A (p.Ala344Thr) rs114942253 0.00255
NM_203446.3(SYNJ1):c.3590C>T (p.Thr1197Met) rs145937537 0.00200
NM_203446.3(SYNJ1):c.3369A>G (p.Pro1123=) rs368850131 0.00183
NM_203446.3(SYNJ1):c.705+7A>G rs187016397 0.00040
NM_203446.3(SYNJ1):c.3638G>A (p.Arg1213Gln) rs144048853 0.00013
NM_203446.3(SYNJ1):c.*232C>T rs373563239 0.00001
NM_203446.3(SYNJ1):c.3324G>A (p.Pro1108=) rs757804939 0.00001
NM_203446.3(SYNJ1):c.*186_*187insAATACT rs57257560
NM_203446.3(SYNJ1):c.2461+2T>C
NM_203446.3(SYNJ1):c.3140G>A (p.Arg1047Gln)
NM_203446.3(SYNJ1):c.3278C>T (p.Pro1093Leu) rs1326671091
NM_203446.3(SYNJ1):c.3300C>T (p.Ala1100=) rs2040034208
NM_203446.3(SYNJ1):c.384T>C (p.Phe128=) rs746811167
NM_203446.3(SYNJ1):c.528T>A (p.Asp176Glu) rs1277503442

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