ClinVar Miner

List of variants reported as benign for Segawa syndrome, autosomal recessive

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Total variants: 9
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HGVS dbSNP
NM_000207.3(INS):c.-17-6T>A rs689
NM_000207.3(INS):c.-18+4_-18+5insTTGC rs3842740
NM_000207.3(INS):c.187+11T>C rs5506
NM_001042376.3(INS-IGF2):c.187+942C>T rs3842752
NM_001042376.3(INS-IGF2):c.187+955A>C rs3842753
NM_199292.3(TH):c.1070+8C>G rs12419447
NM_199292.3(TH):c.16G>A (p.Ala6Thr) rs74555599
NM_199292.3(TH):c.334G>A (p.Val112Met) rs6356
NM_199292.3(TH):c.813G>A (p.Lys271=) rs6357

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