ClinVar Miner

List of variants in gene SYNJ1 reported as uncertain significance for Inborn genetic diseases

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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_203446.3(SYNJ1):c.2874+5G>A rs371765751 0.00024
NM_203446.3(SYNJ1):c.3139C>G (p.Arg1047Gly) rs147931121 0.00014
NM_203446.3(SYNJ1):c.1701G>C (p.Lys567Asn) rs147684005 0.00011
NM_203446.3(SYNJ1):c.3097T>C (p.Ser1033Pro) rs61752559 0.00011
NM_203446.3(SYNJ1):c.-47G>C rs1018405878 0.00010
NM_203446.3(SYNJ1):c.2254G>T (p.Asp752Tyr) rs145978776 0.00010
NM_203446.3(SYNJ1):c.*257G>T rs112469776 0.00006
NM_203446.3(SYNJ1):c.*709C>T rs912535820 0.00006
NM_203446.3(SYNJ1):c.1106G>A (p.Ser369Asn) rs147544792 0.00006
NM_203446.3(SYNJ1):c.2885G>A (p.Arg962Gln) rs371117480 0.00006
NM_203446.3(SYNJ1):c.2250T>A (p.Asn750Lys) rs570501803 0.00005
NM_203446.3(SYNJ1):c.1744A>G (p.Thr582Ala) rs370817503 0.00004
NM_203446.3(SYNJ1):c.*704C>G rs367591704 0.00003
NM_203446.3(SYNJ1):c.-83A>G rs775805673 0.00003
NM_203446.3(SYNJ1):c.1511-4A>G rs533995497 0.00003
NM_203446.3(SYNJ1):c.2587G>A (p.Val863Ile) rs377350366 0.00003
NM_203446.3(SYNJ1):c.*110C>T rs959757570 0.00002
NM_203446.3(SYNJ1):c.3652A>G (p.Arg1218Gly) rs139146760 0.00002
NM_203446.3(SYNJ1):c.3722T>C (p.Leu1241Pro) rs548516848 0.00002
NM_203446.3(SYNJ1):c.685A>C (p.Asn229His) rs1430187026 0.00002
NM_203446.3(SYNJ1):c.803G>A (p.Arg268His) rs201796096 0.00002
NM_203446.3(SYNJ1):c.*212C>T rs754791304 0.00001
NM_203446.3(SYNJ1):c.*232C>T rs373563239 0.00001
NM_203446.3(SYNJ1):c.*265C>A rs769312346 0.00001
NM_203446.3(SYNJ1):c.-86G>A rs768854034 0.00001
NM_203446.3(SYNJ1):c.1291G>A (p.Val431Met) rs749980859 0.00001
NM_203446.3(SYNJ1):c.1886C>T (p.Ala629Val) rs773372851 0.00001
NM_203446.3(SYNJ1):c.2126G>A (p.Arg709Gln) rs142478967 0.00001
NM_203446.3(SYNJ1):c.2505C>A (p.Ser835Arg) rs748032685 0.00001
NM_203446.3(SYNJ1):c.2744T>C (p.Ile915Thr) rs867564053 0.00001
NM_203446.3(SYNJ1):c.2786T>C (p.Ile929Thr) rs755258923 0.00001
NM_203446.3(SYNJ1):c.3410C>T (p.Pro1137Leu) rs569046864 0.00001
NM_203446.3(SYNJ1):c.3481C>G (p.Pro1161Ala) rs1473250864 0.00001
NM_203446.3(SYNJ1):c.3584G>C (p.Arg1195Thr) rs1336877948 0.00001
NM_203446.3(SYNJ1):c.440G>A (p.Arg147His) rs749741780 0.00001
NM_003895.4(SYNJ1):c.13T>C (p.Trp5Arg) rs1255271636
NM_203446.3(SYNJ1):c.*142C>T
NM_203446.3(SYNJ1):c.*266C>T
NM_203446.3(SYNJ1):c.*371C>T
NM_203446.3(SYNJ1):c.*415T>A
NM_203446.3(SYNJ1):c.*491A>G
NM_203446.3(SYNJ1):c.*527G>A
NM_203446.3(SYNJ1):c.*552G>C
NM_203446.3(SYNJ1):c.*574T>A rs138122167
NM_203446.3(SYNJ1):c.*678C>G rs760299495
NM_203446.3(SYNJ1):c.*719CT[1] rs1236484854
NM_203446.3(SYNJ1):c.-28_-23+5dup
NM_203446.3(SYNJ1):c.-44G>C
NM_203446.3(SYNJ1):c.-60G>T rs535611172
NM_203446.3(SYNJ1):c.102G>C (p.Glu34Asp)
NM_203446.3(SYNJ1):c.1127G>A (p.Ser376Asn)
NM_203446.3(SYNJ1):c.1282A>G (p.Met428Val)
NM_203446.3(SYNJ1):c.1301A>G (p.Asp434Gly)
NM_203446.3(SYNJ1):c.1789G>A (p.Ala597Thr) rs1601363222
NM_203446.3(SYNJ1):c.1853C>A (p.Thr618Lys)
NM_203446.3(SYNJ1):c.1952+1G>A
NM_203446.3(SYNJ1):c.2258C>G (p.Ser753Cys)
NM_203446.3(SYNJ1):c.225A>T (p.Leu75Phe)
NM_203446.3(SYNJ1):c.2297C>T (p.Ala766Val)
NM_203446.3(SYNJ1):c.2399G>C (p.Arg800Pro)
NM_203446.3(SYNJ1):c.2869A>G (p.Lys957Glu)
NM_203446.3(SYNJ1):c.2880G>T (p.Leu960Phe)
NM_203446.3(SYNJ1):c.325G>A (p.Asp109Asn)
NM_203446.3(SYNJ1):c.3317A>C (p.Lys1106Thr)
NM_203446.3(SYNJ1):c.3406G>C (p.Ala1136Pro)
NM_203446.3(SYNJ1):c.344G>T (p.Arg115Leu) rs951976946
NM_203446.3(SYNJ1):c.3463A>G (p.Arg1155Gly)
NM_203446.3(SYNJ1):c.3515T>C (p.Ile1172Thr)
NM_203446.3(SYNJ1):c.3637C>T (p.Arg1213Trp) rs779662077
NM_203446.3(SYNJ1):c.535T>G (p.Leu179Val)
NM_203446.3(SYNJ1):c.851G>A (p.Arg284Lys) rs565013600
NM_203446.3(SYNJ1):c.964T>A (p.Ser322Thr)

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