ClinVar Miner

List of variants reported as benign by Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.20067+1063T>C rs6928675 0.76936
NM_182961.4(SYNE1):c.19894-204G>A rs1830820 0.74551
NM_182961.4(SYNE1):c.20067+190G>T rs4869757 0.74433
NM_182961.4(SYNE1):c.20067+865C>T rs6905741 0.74375
NM_182961.4(SYNE1):c.20067+1279G>T rs9397089 0.72800
NC_000007.14:g.67771556T>C rs35629450 0.61823
NC_000007.14:g.67766270A>G rs9691826 0.61804
NC_000007.14:g.67763644A>G rs13307299 0.61708
NC_000007.14:g.67772928A>C rs6964106 0.61672
NC_000007.14:g.67770265T>G rs6946808 0.61055
NC_000017.11:g.41539026C>T rs7212439 0.60455
NC_000007.14:g.67768864T>C rs34912838 0.59939
NM_002276.5(KRT19):c.90C>T (p.Ala30=) rs11550883 0.59102
NC_000017.11:g.41521447T>C rs56389952 0.58308
NM_178140.4(PDZD2):c.8353+2151C>T rs4867419 0.55651
NM_178140.4(PDZD2):c.8219-43A>T rs2279232 0.55498
NC_000011.10:g.56698623C>T rs1397048 0.54056
NC_000011.10:g.56697829T>A rs1509995 0.51757
NC_000011.10:g.56685847C>T rs1588387 0.47558
NC_000011.10:g.56684041A>T rs4340069 0.47502
NM_001243439.2(SPECC1):c.3118-1937T>G rs7223476 0.40460
NM_178140.4(PDZD2):c.4248A>G (p.Pro1416=) rs157497 0.36635
NM_178140.4(PDZD2):c.3683-9C>T rs157494 0.36411
NC_000011.10:g.121432497G>A rs17125336 0.29501
NC_000011.10:g.121431110C>A rs17125331 0.29484
NC_000017.11:g.19754534C>G rs56191443 0.25779
NC_000011.10:g.121431937A>G rs17125333 0.24576
NC_000011.10:g.121431925T>A rs55736743 0.24553
NC_000011.10:g.121432865T>G rs12417885 0.24366
NC_000011.10:g.121435753G>A rs4146874 0.23813
NC_000005.10:g.4478434A>C rs10066908 0.23511
NC_000018.10:g.22148844T>A rs72879076 0.17859
NC_000007.14:g.67751383T>A rs6977845 0.16536
NM_000750.5(CHRNB4):c.1304C>T (p.Ala435Val) rs56317523 0.00230
NM_005235.3(ERBB4):c.308G>A (p.Arg103His) rs754487821 0.00033
NM_000750.5(CHRNB4):c.498C>G (p.Asn166Lys) rs148540431 0.00007
NM_004082.5(DCTN1):c.94C>T (p.Arg32Cys) rs751177222 0.00001
NC_000007.14:g.67770277A>G rs6942794
NC_000011.10:g.56455965_56455966del rs1853510701
NC_000011.10:g.56673649T>C rs7130569
NC_000011.10:g.56685650G>T rs7109249
NC_000011.10:g.56686812G>A rs7113794
NC_000011.10:g.56689664T>C rs55848395
NC_000011.10:g.56693468GTT[6] rs3071452
NC_000017.11:g.41535537G>A rs963478
NC_000018.10:g.22148845C>A rs62092220
NM_003817.4(ADAM7):c.633+3318dup rs55708871
NM_004082.5(DCTN1):c.2794C>T (p.Arg932Cys) rs373818927
NM_006918.5(SC5D):c.-10-2064del rs1947924214
NM_006918.5(SC5D):c.210+368_210+370del rs1947943877
NM_015258.2(FKBP15):c.54-172A>C rs4989078
NM_015258.2(FKBP15):c.865-269A>T rs10817455
NM_022469.4(GREM2):c.-1-16027A>C rs61832588
NM_178140.4(PDZD2):c.7845+1524A>G rs245154

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