ClinVar Miner

List of variants in gene SYNJ1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_203446.3(SYNJ1):c.6G>A (p.Ala2=) rs61750221 0.00452
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.2943G>T (p.Met981Ile) rs115683257 0.00245
NM_203446.3(SYNJ1):c.*315G>A rs145347648 0.00241
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.2346G>A (p.Pro782=) rs61753644 0.00088
NM_203446.3(SYNJ1):c.2120T>C (p.Ile707Thr) rs147929290 0.00074
NM_203446.3(SYNJ1):c.*732C>T rs148676465 0.00068
NM_203446.3(SYNJ1):c.*552G>A rs146425050 0.00064
NM_203446.3(SYNJ1):c.909A>G (p.Gly303=) rs145522240 0.00026
NM_203446.3(SYNJ1):c.2874+5G>A rs371765751 0.00024
NM_203446.3(SYNJ1):c.3753T>G (p.Ser1251=) rs150595970 0.00012
NM_203446.3(SYNJ1):c.3762C>T (p.Pro1254=) rs201117151 0.00009
NM_203446.3(SYNJ1):c.-31G>C rs751083536 0.00006
NM_203446.3(SYNJ1):c.*690G>A rs559102258 0.00005
NM_203446.3(SYNJ1):c.2172T>C (p.Tyr724=) rs144454116 0.00005
NM_203446.3(SYNJ1):c.1511-4A>G rs533995497 0.00003
NM_203446.3(SYNJ1):c.324C>T (p.Ile108=) rs551070196 0.00003
NM_203446.3(SYNJ1):c.-49A>G rs780877494 0.00002
NM_203446.3(SYNJ1):c.1959T>G (p.Val653=) rs747138067 0.00002
NM_203446.3(SYNJ1):c.*75A>G rs756090874 0.00001
NM_203446.3(SYNJ1):c.3270A>G (p.Pro1090=) rs1299635688 0.00001
NM_203446.3(SYNJ1):c.885A>G (p.Lys295=) rs1219063833 0.00001
NM_203446.3(SYNJ1):c.*487C>T
NM_203446.3(SYNJ1):c.*522G>C rs777945782
NM_203446.3(SYNJ1):c.*801A>G
NM_203446.3(SYNJ1):c.2131T>C (p.Leu711=)
NM_203446.3(SYNJ1):c.3009A>C (p.Ala1003=)
NM_203446.3(SYNJ1):c.3126C>A (p.Pro1042=) rs1601264866

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