ClinVar Miner

List of variants in gene SYNE1 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.8336T>G (p.Ile2779Ser) rs77121899 0.01555
NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser) rs116758271 0.01300
NM_182961.4(SYNE1):c.10598G>A (p.Arg3533His) rs145911138 0.01237
NM_182961.4(SYNE1):c.10827A>C (p.Gln3609His) rs79486252 0.00887
NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn) rs35493783 0.00602
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) rs141716975 0.00570
NM_182961.4(SYNE1):c.12000G>A (p.Ala4000=) rs148493518 0.00546
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988 0.00396
NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=) rs140861713 0.00395
NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala) rs141464488 0.00359
NM_182961.4(SYNE1):c.19991C>T (p.Thr6664Ile) rs35079654 0.00339
NM_182961.4(SYNE1):c.21882C>A (p.Gly7294=) rs35106977 0.00325
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln) rs76646638 0.00314
NM_182961.4(SYNE1):c.2177A>G (p.Glu726Gly) rs35297226 0.00276
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro) rs139834542 0.00178
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys) rs149146258 0.00178
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val) rs117360770 0.00170
NM_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu) rs148376885 0.00169
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.22554G>A (p.Gly7518=) rs148240825 0.00089
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248 0.00083
NM_182961.4(SYNE1):c.23260G>A (p.Val7754Ile) rs150550013 0.00042
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=) rs144418713 0.00041
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln) rs141586001 0.00032
NM_182961.4(SYNE1):c.9377C>G (p.Ser3126Cys) rs139089832 0.00023
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala) rs201313856 0.00018
NM_182961.4(SYNE1):c.11594C>T (p.Thr3865Met) rs202173395 0.00016
NM_182961.4(SYNE1):c.8005-3C>T rs117084693 0.00011
NM_182961.4(SYNE1):c.16211C>T (p.Ala5404Val) rs140850000 0.00009
NM_182961.4(SYNE1):c.20182C>T (p.Arg6728Cys) rs150063353 0.00009
NM_182961.4(SYNE1):c.9448G>A (p.Ala3150Thr) rs141821444 0.00008
NM_182961.4(SYNE1):c.20200-3T>C rs770710698 0.00007
NM_182961.4(SYNE1):c.19544T>C (p.Phe6515Ser) rs747674900 0.00006
NM_182961.4(SYNE1):c.245G>A (p.Arg82Gln) rs143900928 0.00006
NM_182961.4(SYNE1):c.666G>A (p.Pro222=) rs141368652 0.00006
NM_182961.4(SYNE1):c.16229G>A (p.Arg5410Gln) rs776100963 0.00004
NM_182961.4(SYNE1):c.3493C>T (p.Arg1165Cys) rs777507702 0.00004
NM_182961.4(SYNE1):c.1943G>A (p.Arg648Gln) rs768605521 0.00003
NM_182961.4(SYNE1):c.21815A>G (p.Lys7272Arg) rs764715827 0.00003
NM_182961.4(SYNE1):c.3404A>C (p.Glu1135Ala) rs764928878 0.00003
NM_182961.4(SYNE1):c.6431A>G (p.Asn2144Ser) rs28447480 0.00002
NM_182961.4(SYNE1):c.12693A>G (p.Gln4231=) rs1266975368 0.00001
NM_182961.4(SYNE1):c.16709A>G (p.Gln5570Arg) rs928178334 0.00001
NM_182961.4(SYNE1):c.25246+3G>A rs765849365 0.00001
NM_182961.4(SYNE1):c.25706T>C (p.Ile8569Thr) rs760698113 0.00001
NM_182961.4(SYNE1):c.26106G>A (p.Lys8702=) rs765865910 0.00001
NM_182961.4(SYNE1):c.3087T>C (p.Asn1029=) rs770801617 0.00001
NM_182961.4(SYNE1):c.1951C>T (p.Pro651Ser) rs1455678689
NM_182961.4(SYNE1):c.23139T>C (p.Arg7713=) rs899533876
NM_182961.4(SYNE1):c.5269A>G (p.Ile1757Val) rs1196594228
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu) rs149901087
NM_182961.4(SYNE1):c.994A>T (p.Arg332Ter) rs1564400585

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