ClinVar Miner

List of variants reported as likely pathogenic for Developmental and epileptic encephalopathy, 17

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_020988.3(GNAO1):c.1021_1023del (p.Asp341del) rs2543432175
NM_020988.3(GNAO1):c.114_116del (p.Leu39del)
NM_020988.3(GNAO1):c.118G>A (p.Gly40Arg) rs886041715
NM_020988.3(GNAO1):c.136A>G (p.Lys46Glu) rs2143272162
NM_020988.3(GNAO1):c.143C>A (p.Thr48Asn) rs1555499800
NM_020988.3(GNAO1):c.143C>T (p.Thr48Ile) rs1555499800
NM_020988.3(GNAO1):c.451G>A (p.Asp151Asn) rs1596867702
NM_020988.3(GNAO1):c.509C>G (p.Pro170Arg) rs2506871916
NM_020988.3(GNAO1):c.57T>G (p.Ile19Met) rs2506529438
NM_020988.3(GNAO1):c.614A>C (p.Gln205Pro) rs2143664881
NM_020988.3(GNAO1):c.626G>T (p.Arg209Leu) rs797044878
NM_020988.3(GNAO1):c.680C>T (p.Ala227Val) rs797045599
NM_020988.3(GNAO1):c.687C>G (p.Ser229Arg) rs546569747
NM_020988.3(GNAO1):c.692A>G (p.Tyr231Cys) rs1057518678
NM_020988.3(GNAO1):c.731T>A (p.Met244Lys) rs2037919953
NM_020988.3(GNAO1):c.737A>T (p.Glu246Val) rs1114167431
NM_020988.3(GNAO1):c.751T>A (p.Phe251Ile) rs2543427201
NM_020988.3(GNAO1):c.973T>G (p.Cys325Gly) rs2037954227

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