ClinVar Miner

List of variants in gene LOC126859837, SYNE1 studied for cerebellar ataxia

Included ClinVar conditions (255):
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Gene type:
ClinVar version:
Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.17202+24G>A rs12662994 0.09437
NM_182961.4(SYNE1):c.16850G>A (p.Arg5617Gln) rs141550859 0.00049
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp) rs369292604 0.00017
NM_182961.4(SYNE1):c.17020-20C>T rs558291255 0.00017
NM_182961.4(SYNE1):c.16901T>C (p.Met5634Thr) rs138509817 0.00012
NM_182961.4(SYNE1):c.17089C>T (p.Arg5697Trp) rs150290283 0.00012
NM_182961.4(SYNE1):c.17052G>A (p.Pro5684=) rs148994723 0.00010
NM_182961.4(SYNE1):c.17175C>T (p.Thr5725=) rs200002217 0.00010
NM_182961.4(SYNE1):c.17150A>C (p.Glu5717Ala) rs780396166 0.00008
NM_182961.4(SYNE1):c.16786G>A (p.Val5596Met) rs148158986 0.00007
NM_182961.4(SYNE1):c.16928A>G (p.Lys5643Arg) rs144714939 0.00005
NM_182961.4(SYNE1):c.16868G>A (p.Arg5623His) rs753544584 0.00004
NM_182961.4(SYNE1):c.17140C>T (p.Arg5714Trp) rs202171698 0.00004
NM_182961.4(SYNE1):c.17141G>A (p.Arg5714Gln) rs367925174 0.00004
NM_182961.4(SYNE1):c.17029T>C (p.Ser5677Pro) rs373679435 0.00003
NM_182961.4(SYNE1):c.16897-13A>G rs754825945 0.00002
NM_182961.4(SYNE1):c.17014C>T (p.Arg5672Trp) rs780794124 0.00002
NM_182961.4(SYNE1):c.17071C>T (p.Leu5691Phe) rs767705064 0.00002
NM_182961.4(SYNE1):c.17174C>A (p.Thr5725Asn) rs751747080 0.00002
NM_182961.4(SYNE1):c.16785C>T (p.Ser5595=) rs142010074 0.00001
NM_182961.4(SYNE1):c.16832G>A (p.Arg5611Gln) rs746879340 0.00001
NM_182961.4(SYNE1):c.16867C>T (p.Arg5623Cys) rs570556738 0.00001
NM_182961.4(SYNE1):c.16956G>A (p.Gln5652=) rs1455225493 0.00001
NM_182961.4(SYNE1):c.16999G>A (p.Glu5667Lys) rs749088509 0.00001
NM_182961.4(SYNE1):c.17016G>T (p.Arg5672=) rs573806608 0.00001
NM_182961.4(SYNE1):c.17020-16G>A rs745471011 0.00001
NM_182961.4(SYNE1):c.17097C>T (p.Pro5699=) rs769890058 0.00001
NM_182961.4(SYNE1):c.17098G>A (p.Glu5700Lys) rs1227780117 0.00001
NM_182961.4(SYNE1):c.17118A>G (p.Leu5706=) rs1194006323 0.00001
NM_182961.4(SYNE1):c.17189G>A (p.Cys5730Tyr) rs759609921 0.00001
NM_182961.4(SYNE1):c.16746G>A (p.Glu5582=)
NM_182961.4(SYNE1):c.16763A>G (p.Glu5588Gly)
NM_182961.4(SYNE1):c.16764G>A (p.Glu5588=)
NM_182961.4(SYNE1):c.16804del (p.Met5602fs)
NM_182961.4(SYNE1):c.16809T>C (p.Ser5603=)
NM_182961.4(SYNE1):c.16811A>C (p.Gln5604Pro) rs886043922
NM_182961.4(SYNE1):c.16813C>A (p.Gln5605Lys) rs1045463275
NM_182961.4(SYNE1):c.16815_16821dup (p.Glu5608fs) rs886043923
NM_182961.4(SYNE1):c.16834G>A (p.Glu5612Lys)
NM_182961.4(SYNE1):c.16840G>T (p.Glu5614Ter) rs777656140
NM_182961.4(SYNE1):c.16849C>A (p.Arg5617=)
NM_182961.4(SYNE1):c.16849C>T (p.Arg5617Ter) rs758379604
NM_182961.4(SYNE1):c.16859T>G (p.Ile5620Ser) rs765080468
NM_182961.4(SYNE1):c.16880T>C (p.Leu5627Pro) rs2153836967
NM_182961.4(SYNE1):c.16882C>T (p.Gln5628Ter) rs2153836962
NM_182961.4(SYNE1):c.16896+1G>T
NM_182961.4(SYNE1):c.16896+20del rs545568394
NM_182961.4(SYNE1):c.16896+9dup rs761957607
NM_182961.4(SYNE1):c.16897-20C>T
NM_182961.4(SYNE1):c.16897-6C>G rs372179792
NM_182961.4(SYNE1):c.16909T>A (p.Phe5637Ile)
NM_182961.4(SYNE1):c.16921T>C (p.Leu5641=) rs1554410681
NM_182961.4(SYNE1):c.16923G>A (p.Leu5641=) rs869025528
NM_182961.4(SYNE1):c.16929G>A (p.Lys5643=)
NM_182961.4(SYNE1):c.16942T>C (p.Leu5648=)
NM_182961.4(SYNE1):c.16945G>A (p.Glu5649Lys) rs2153836745
NM_182961.4(SYNE1):c.16958C>A (p.Ala5653Glu) rs776905124
NM_182961.4(SYNE1):c.16963C>T (p.Leu5655=)
NM_182961.4(SYNE1):c.16974A>G (p.Pro5658=) rs771166232
NM_182961.4(SYNE1):c.16978G>A (p.Val5660Ile)
NM_182961.4(SYNE1):c.16984C>A (p.Arg5662Ser) rs145899734
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys) rs145899734
NM_182961.4(SYNE1):c.17001G>A (p.Glu5667=) rs2153836703
NM_182961.4(SYNE1):c.17015G>A (p.Arg5672Gln) rs886043150
NM_182961.4(SYNE1):c.17019+7C>T rs2095511412
NM_182961.4(SYNE1):c.17020-10G>A rs1307856395
NM_182961.4(SYNE1):c.17020-12T>G rs1236300785
NM_182961.4(SYNE1):c.17020-9C>A rs2153836238
NM_182961.4(SYNE1):c.17037G>A (p.Met5679Ile) rs2095499163
NM_182961.4(SYNE1):c.17051C>T (p.Pro5684Leu)
NM_182961.4(SYNE1):c.17053A>G (p.Lys5685Glu)
NM_182961.4(SYNE1):c.17063C>A (p.Ala5688Glu)
NM_182961.4(SYNE1):c.17065G>A (p.Val5689Met) rs1479722158
NM_182961.4(SYNE1):c.17067G>C (p.Val5689=)
NM_182961.4(SYNE1):c.17079G>A (p.Gln5693=)
NM_182961.4(SYNE1):c.17121T>G (p.Pro5707=)
NM_182961.4(SYNE1):c.17133T>G (p.Ala5711=) rs2153836101
NM_182961.4(SYNE1):c.17134G>T (p.Ala5712Ser) rs2153836097
NM_182961.4(SYNE1):c.17145G>A (p.Leu5715=)
NM_182961.4(SYNE1):c.17150A>G (p.Glu5717Gly) rs780396166
NM_182961.4(SYNE1):c.17161C>A (p.Arg5721=) rs138941941
NM_182961.4(SYNE1):c.17161C>T (p.Arg5721Trp) rs138941941
NM_182961.4(SYNE1):c.17176G>A (p.Ala5726Thr) rs775685010
NM_182961.4(SYNE1):c.17176G>T (p.Ala5726Ser)
NM_182961.4(SYNE1):c.17202+16C>T
NM_182961.4(SYNE1):c.17202G>A (p.Gln5734=)

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