ClinVar Miner

List of variants in gene GNAO1 reported as pathogenic for not provided

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_020988.3(GNAO1):c.1023CAT[2] (p.Ile344del) rs2143705016
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg) rs886041715
NM_020988.3(GNAO1):c.118G>T (p.Gly40Trp) rs886041715
NM_020988.3(GNAO1):c.119G>A (p.Gly40Glu) rs886041766
NM_020988.3(GNAO1):c.155A>G (p.Gln52Arg) rs2143272260
NM_020988.3(GNAO1):c.220T>G (p.Tyr74Asp)
NM_020988.3(GNAO1):c.521A>G (p.Asp174Gly) rs587777055
NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg)
NM_020988.3(GNAO1):c.608G>A (p.Gly203Glu) rs2143664859
NM_020988.3(GNAO1):c.617G>T (p.Arg206Leu) rs1297225571
NM_020988.3(GNAO1):c.620C>A (p.Ser207Tyr) rs1057518440
NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys) rs886039494
NM_020988.3(GNAO1):c.626G>A (p.Arg209His) rs797044878
NM_020988.3(GNAO1):c.680C>T (p.Ala227Val)
NM_020988.3(GNAO1):c.692A>G (p.Tyr231Cys) rs1057518678
NM_020988.3(GNAO1):c.709G>A (p.Glu237Lys) rs1064794533
NM_020988.3(GNAO1):c.723+1G>T
NM_020988.3(GNAO1):c.724-8G>A rs1085307876
NM_020988.3(GNAO1):c.725A>C (p.Asn242Thr) rs1085307894
NM_020988.3(GNAO1):c.736G>A (p.Glu246Lys) rs797044951
NM_020988.3(GNAO1):c.736_738delinsAAA (p.Glu246Lys) rs2143699590
NM_020988.3(GNAO1):c.810C>A (p.Asn270Lys) rs2143699686

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