ClinVar Miner

List of variants reported for atypical cerebral palsy by TIDEX, University of British Columbia

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001199267.2(DGKZ):c.2660C>G (p.Thr887Arg) rs76583617 0.00449
NM_170606.3(KMT2C):c.8502A>T (p.Glu2834Asp) rs138845109 0.00321
NM_002579.3(PALM):c.71G>A (p.Arg24Gln) rs201995410 0.00055
NM_002579.3(PALM):c.461C>T (p.Thr154Met) rs772962279 0.00003
NM_001199267.2(DGKZ):c.162-921dup rs770590945
NM_004438.5(EPHA4):c.2242G>A (p.Ala748Thr) rs1553568456
NM_006922.4(SCN3A):c.626T>C (p.Leu209Pro) rs1553537132
NM_025179.4(PLXNA2):c.2206G>A (p.Gly736Ser) rs1553277591

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