ClinVar Miner

List of variants in gene SYNE2 reported as uncertain significance for not specified

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Gene type:
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_182914.3(SYNE2):c.16088A>G (p.His5363Arg) rs150677837 0.00065
NM_182914.3(SYNE2):c.3506G>A (p.Arg1169His) rs200437377 0.00064
NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln) rs117647282 0.00064
NM_182914.3(SYNE2):c.14844-8C>G rs375500620 0.00051
NM_182914.3(SYNE2):c.521A>G (p.Lys174Arg) rs139238702 0.00048
NM_182914.3(SYNE2):c.5155A>G (p.Met1719Val) rs189676187 0.00032
NM_182914.3(SYNE2):c.11164-4C>T rs370961691 0.00029
NM_182914.3(SYNE2):c.19136G>A (p.Arg6379His) rs150629598 0.00017
NM_182914.3(SYNE2):c.10306G>A (p.Gly3436Ser) rs768614412 0.00009
NM_182914.3(SYNE2):c.10760C>T (p.Ser3587Phe) rs748430621 0.00009
NM_182914.3(SYNE2):c.12397G>T (p.Ala4133Ser) rs758104840 0.00006
NM_182914.3(SYNE2):c.4252G>C (p.Val1418Leu) rs770898049 0.00006
NM_182914.3(SYNE2):c.11108A>G (p.Glu3703Gly) rs763363520 0.00004
NM_182914.3(SYNE2):c.11665G>A (p.Ala3889Thr) rs759802358 0.00004
NM_182914.3(SYNE2):c.2023A>G (p.Ile675Val) rs199854951 0.00004
NM_182914.3(SYNE2):c.4423A>G (p.Lys1475Glu) rs761080544 0.00004
NM_182914.3(SYNE2):c.15792G>C (p.Gln5264His) rs368363575 0.00003
NM_182914.3(SYNE2):c.8474G>A (p.Arg2825Lys) rs748757670 0.00003
NM_182914.3(SYNE2):c.11084T>C (p.Ile3695Thr) rs774045803 0.00001
GRCh37/hg19 14q23.2(chr14:64589453-64635085)x1
NM_182914.3(SYNE2):c.1019A>G (p.Asn340Ser)
NM_182914.3(SYNE2):c.11549_11550delinsGA (p.Asp3850Gly) rs1555473349
NM_182914.3(SYNE2):c.11854G>A (p.Val3952Met) rs758155150
NM_182914.3(SYNE2):c.1186G>T (p.Glu396Ter) rs1405666656
NM_182914.3(SYNE2):c.12537A>C (p.Gln4179His)
NM_182914.3(SYNE2):c.1346A>T (p.Asn449Ile)
NM_182914.3(SYNE2):c.13549A>G (p.Thr4517Ala) rs980737727
NM_182914.3(SYNE2):c.19820C>T (p.Ser6607Phe) rs879255436
NM_182914.3(SYNE2):c.2002-18T>G
NM_182914.3(SYNE2):c.20351C>G (p.Ser6784Cys) rs1555561946
NM_182914.3(SYNE2):c.20632_20634delinsGAA (p.Ser6878Glu) rs1555564487
NM_182914.3(SYNE2):c.2366A>T (p.Asp789Val) rs1555415944
NM_182914.3(SYNE2):c.5737C>T (p.Leu1913Phe) rs780436538
NM_182914.3(SYNE2):c.590C>T (p.Thr197Ile)
NM_182914.3(SYNE2):c.6135_6136delinsGA (p.Ser2045_Phe2046delinsArgIle)
NM_182914.3(SYNE2):c.7495C>G (p.Gln2499Glu)
NM_182914.3(SYNE2):c.7549A>G (p.Ser2517Gly) rs774431675

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