ClinVar Miner

List of variants reported as likely pathogenic for congenital nystagmus

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175 0.00087
NM_002941.4(ROBO1):c.4565C>T (p.Ser1522Leu) rs199958211 0.00055
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_000153.4(GALC):c.850G>A (p.Gly284Ser) rs377274761 0.00003
NM_001379500.1(COL18A1):c.929-2A>G rs765919785 0.00003
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727 0.00002
NM_194277.3(FRMD7):c.875T>C (p.Leu292Pro) rs192346335 0.00002
NM_194277.3(FRMD7):c.425T>G (p.Leu142Arg) rs137852211 0.00001
NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser) rs758361736 0.00001
NM_000153.4(GALC):c.196G>A (p.Ala66Thr) rs1057518843
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del) rs552184470
NM_000266.4(NDP):c.314C>T (p.Ala105Val) rs1057518836
NM_000273.3(GPR143):c.12_36del (p.Leu6fs) rs1057518787
NM_000273.3(GPR143):c.349del (p.Val117fs)
NM_001134225.2(INPP4A):c.352_353del (p.Ser118fs) rs1574965220
NM_001367721.1(CASK):c.2236+1delinsAT rs1555975523
NM_001367721.1(CASK):c.2521-2A>G rs398122845
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) rs121907922
NM_001379500.1(COL18A1):c.3448C>T (p.Arg1150Ter) rs1057518802
NM_002547.3(OPHN1):c.746T>C (p.Leu249Pro) rs1057518963
NM_004115.4(FGF14):c.194-1G>C
NM_005548.3(KARS1):c.256C>T (p.Gln86Ter) rs2151809445
NM_015046.7(SETX):c.5222dup (p.Asp1742fs) rs730882209
NM_020247.5(COQ8A):c.1744dup (p.Ser582fs) rs1553281318
NM_021728.4(OTX2):c.191_193delinsGG (p.Leu64fs) rs1555350397
NM_144643.4(SCLT1):c.2060dup (p.Asn687fs)
NM_153704.6(TMEM67):c.2418_2423dup (p.805_806MN[3]) rs1554558365
NM_194277.3(FRMD7):c.1050+1G>C rs1927753913
NM_194277.3(FRMD7):c.832T>C (p.Phe278Leu)
NM_194277.3(FRMD7):c.886G>T (p.Gly296Cys)

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