ClinVar Miner

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

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Total variants: 20
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HGVS dbSNP
NM_022370.4(ROBO3):c.1082G>A (p.Gly361Glu) rs121918270
NM_022370.4(ROBO3):c.1158G>C (p.Gln386His)
NM_022370.4(ROBO3):c.1379A>G (p.Gln460Arg) rs771613910
NM_022370.4(ROBO3):c.1433C>T (p.Pro478Leu)
NM_022370.4(ROBO3):c.1450T>C (p.Trp484Arg)
NM_022370.4(ROBO3):c.14T>C (p.Leu5Pro) rs121918275
NM_022370.4(ROBO3):c.1726T>C (p.Trp576Arg)
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)
NM_022370.4(ROBO3):c.2663T>C (p.Leu888Pro)
NM_022370.4(ROBO3):c.271C>T (p.Pro91Ser)
NM_022370.4(ROBO3):c.284T>C (p.Ile95Thr)
NM_022370.4(ROBO3):c.335G>C (p.Arg112Pro)
NM_022370.4(ROBO3):c.3412del (p.Arg1138fs)
NM_022370.4(ROBO3):c.416G>T (p.Gly139Val)
NM_022370.4(ROBO3):c.733C>T (p.Arg245Trp) rs121918277
NM_022370.4(ROBO3):c.767-1G>A
NM_022370.4(ROBO3):c.955G>A (p.Glu319Lys) rs121918274

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