ClinVar Miner

List of variants in gene SYNE1 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.2177A>G (p.Glu726Gly) rs35297226 0.00276
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser) rs149758808 0.00275
NM_182961.4(SYNE1):c.7433C>G (p.Ser2478Cys) rs149030452 0.00156
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) rs138617999 0.00106
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) rs147998933 0.00101
NM_182961.4(SYNE1):c.581+18G>A rs111309750 0.00095
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248 0.00083
NM_182961.4(SYNE1):c.21149G>A (p.Arg7050Gln) rs143639400 0.00043
NM_182961.4(SYNE1):c.4732C>T (p.Pro1578Ser) rs199769508 0.00034
NM_182961.4(SYNE1):c.21782G>A (p.Arg7261Gln) rs61742716 0.00030
NM_182961.4(SYNE1):c.7435A>G (p.Lys2479Glu) rs188146577 0.00027
NM_182961.4(SYNE1):c.15202A>G (p.Lys5068Glu) rs139805184 0.00021
NM_182961.4(SYNE1):c.4723C>T (p.Leu1575Phe) rs200424447 0.00015
NM_001347702.2(SYNE1):c.1464T>G (p.Pro488=) rs770649913 0.00011
NM_182961.4(SYNE1):c.24635G>A (p.Arg8212His) rs766462111 0.00008
NM_182961.4(SYNE1):c.6231-12T>C rs370687503 0.00005
NM_182961.4(SYNE1):c.15918-12A>G rs606231134 0.00004
NM_182961.4(SYNE1):c.4075A>G (p.Thr1359Ala) rs377718960 0.00004
NM_182961.4(SYNE1):c.13181T>G (p.Leu4394Arg) rs763501028 0.00002
NM_182961.4(SYNE1):c.14335G>T (p.Ala4779Ser) rs368490158 0.00002
NM_182961.4(SYNE1):c.18972+4T>C rs774096623 0.00002
NM_182961.4(SYNE1):c.17332A>G (p.Ile5778Val) rs762422242 0.00001
NM_182961.4(SYNE1):c.21199C>G (p.Leu7067Val) rs749058571 0.00001
NM_182961.4(SYNE1):c.24786T>G (p.Ala8262=) rs978851902 0.00001
NM_182961.4(SYNE1):c.4561C>T (p.Arg1521Ter) rs771760718 0.00001
NM_182961.4(SYNE1):c.6031C>T (p.Arg2011Cys) rs767563434 0.00001
NC_000006.11:g.(152861157_152949399)_(152949690_152957772)del
NM_182961.4(SYNE1):c.10883A>G (p.Gln3628Arg)
NM_182961.4(SYNE1):c.12226-4C>T
NM_182961.4(SYNE1):c.1343A>G (p.Gln448Arg)
NM_182961.4(SYNE1):c.13825C>A (p.Leu4609Ile) rs2153972296
NM_182961.4(SYNE1):c.16657A>G (p.Thr5553Ala)
NM_182961.4(SYNE1):c.17545A>G (p.Thr5849Ala) rs2095126393
NM_182961.4(SYNE1):c.18435C>A (p.Val6145=)
NM_182961.4(SYNE1):c.19663C>G (p.Pro6555Ala)
NM_182961.4(SYNE1):c.19672C>T (p.Gln6558Ter) rs2086610889
NM_182961.4(SYNE1):c.21009G>A (p.Trp7003Ter)
NM_182961.4(SYNE1):c.225G>C (p.Leu75=)
NM_182961.4(SYNE1):c.23999T>C (p.Leu8000Ser)
NM_182961.4(SYNE1):c.25258C>T (p.Arg8420Ter)
NM_182961.4(SYNE1):c.281C>T (p.Thr94Met)
NM_182961.4(SYNE1):c.310-13C>T
NM_182961.4(SYNE1):c.4570G>A (p.Ala1524Thr)
NM_182961.4(SYNE1):c.5246_5256del (p.Leu1749fs)
NM_182961.4(SYNE1):c.706C>T (p.Arg236Ter) rs2154331501
NM_182961.4(SYNE1):c.9147-15_9147-13delinsTCA
NM_182961.4(SYNE1):c.943G>A (p.Glu315Lys)

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