ClinVar Miner

List of variants reported as likely pathogenic for Gaze palsy, familial horizontal, with progressive scoliosis 1

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_022370.4(ROBO3):c.955G>A (p.Glu319Lys) rs121918274 0.00003
NM_022370.4(ROBO3):c.1379A>G (p.Gln460Arg) rs771613910 0.00002
NM_022370.4(ROBO3):c.733C>T (p.Arg245Trp) rs121918277 0.00001
NM_022370.4(ROBO3):c.1082G>A (p.Gly361Glu) rs121918270
NM_022370.4(ROBO3):c.1158G>C (p.Gln386His) rs1286915599
NM_022370.4(ROBO3):c.1433C>T (p.Pro478Leu) rs767693909
NM_022370.4(ROBO3):c.1450T>C (p.Trp484Arg) rs1946299628
NM_022370.4(ROBO3):c.14T>C (p.Leu5Pro) rs121918275
NM_022370.4(ROBO3):c.1726T>C (p.Trp576Arg) rs1946311947
NM_022370.4(ROBO3):c.196A>C (p.Ile66Leu) rs121918276
NM_022370.4(ROBO3):c.2108G>C (p.Arg703Pro) rs121918271
NM_022370.4(ROBO3):c.2113T>C (p.Ser705Pro) rs121918272
NM_022370.4(ROBO3):c.2312C>T (p.Pro771Leu) rs1946347156
NM_022370.4(ROBO3):c.2663T>C (p.Leu888Pro) rs1946370497
NM_022370.4(ROBO3):c.271C>T (p.Pro91Ser) rs1946240450
NM_022370.4(ROBO3):c.284T>C (p.Ile95Thr) rs1946240617
NM_022370.4(ROBO3):c.335G>C (p.Arg112Pro) rs1946241537
NM_022370.4(ROBO3):c.3412del (p.Arg1138fs) rs1946470902
NM_022370.4(ROBO3):c.3493C>T (p.Gln1165Ter)
NM_022370.4(ROBO3):c.3937C>T (p.Gln1313Ter)
NM_022370.4(ROBO3):c.416G>T (p.Gly139Val) rs1946243211
NM_022370.4(ROBO3):c.767-1G>A rs1946261580

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