List of variants in gene SYNE1 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu)	rs149109801	0.00172
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe)	rs41301343	0.00100
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile)	rs139170018	0.00054
NM_182961.4(SYNE1):c.24488T>C (p.Ile8163Thr)	rs139643725	0.00045
NM_182961.4(SYNE1):c.9091A>G (p.Arg3031Gly)	rs144643941	0.00031
NM_182961.4(SYNE1):c.22346+6G>T	rs368678916	0.00020
NM_182961.4(SYNE1):c.24815G>A (p.Arg8272Gln)	rs201029723	0.00018
NM_182961.4(SYNE1):c.14018G>A (p.Arg4673Gln)	rs144963785	0.00009
NM_182961.4(SYNE1):c.1330C>T (p.Arg444Trp)	rs75153800	0.00006
NM_182961.4(SYNE1):c.20027G>A (p.Arg6676Gln)	rs190673256	0.00006
NM_182961.4(SYNE1):c.245G>A (p.Arg82Gln)	rs143900928	0.00006
NM_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln)	rs139075013	0.00004
NM_182961.4(SYNE1):c.12658G>A (p.Asp4220Asn)	rs201449723	0.00002
NM_182961.4(SYNE1):c.14335G>T (p.Ala4779Ser)	rs368490158	0.00002
NM_182961.4(SYNE1):c.2889C>T (p.His963=)	rs747231741	0.00002
NM_182961.4(SYNE1):c.226-10C>T	rs1353706819	0.00001
NM_182961.4(SYNE1):c.5256C>A (p.Ile1752=)	rs587780469	0.00001
NM_182961.4(SYNE1):c.10360G>T (p.Ala3454Ser)	rs797046022
NM_182961.4(SYNE1):c.11680G>C (p.Asp3894His)	rs2154032071
NM_182961.4(SYNE1):c.17203-5C>A	rs886044642
NM_182961.4(SYNE1):c.25229C>T (p.Thr8410Ile)	rs2058481714
NM_182961.4(SYNE1):c.361A>G (p.Ile121Val)	rs1554830234
NM_182961.4(SYNE1):c.5267G>A (p.Arg1756Lys)

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