ClinVar Miner

List of variants in gene GMPPB studied for cobblestone lissencephaly

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 60
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HGVS dbSNP
NM_013334.3(GMPPB):c.1069G>A (p.Val357Ile) rs199922550
NM_013334.3(GMPPB):c.1098C>T (p.Asn366=) rs147074020
NM_013334.3(GMPPB):c.1129G>A (p.Gly377Ser) rs184127567
NM_013334.3(GMPPB):c.210+9_210+10del rs776779111
NM_013334.3(GMPPB):c.220C>T (p.Arg74Ter) rs397509423
NM_013334.3(GMPPB):c.271_283del (p.Ala91fs)
NM_013334.3(GMPPB):c.287_307del (p.Leu96_Asp102del) rs1559697587
NM_013334.3(GMPPB):c.309T>C (p.Pro103=) rs147516683
NM_013334.3(GMPPB):c.330C>T (p.Asp110=) rs11547261
NM_013334.3(GMPPB):c.365_366dup (p.Phe123fs) rs1553691975
NM_013334.3(GMPPB):c.376C>G (p.His126Asp) rs34345884
NM_013334.3(GMPPB):c.456_457CA[1] (p.Thr153fs) rs1553691918
NM_013334.3(GMPPB):c.458C>T (p.Thr153Ile)
NM_013334.3(GMPPB):c.551G>A (p.Arg184Gln) rs1466685
NM_013334.3(GMPPB):c.553C>T (p.Arg185Cys) rs397509425
NM_013334.3(GMPPB):c.607_609del (p.Lys203del) rs1553691853
NM_013334.3(GMPPB):c.79G>C (p.Asp27His) rs142336618
NM_013334.3(GMPPB):c.860G>A (p.Arg287Gln) rs202160208
NM_013334.3(GMPPB):c.931C>T (p.Arg311Cys) rs371188899
NM_013334.3(GMPPB):c.95C>T (p.Pro32Leu) rs397509426
NM_013334.3(GMPPB):c.960G>A (p.Leu320=) rs55816606
NM_021971.2(GMPPB):c.1000G>A rs397509422
NM_021971.2(GMPPB):c.1009T>C (p.Tyr337His) rs1553691683
NM_021971.2(GMPPB):c.1070G>A (p.Arg357His)
NM_021971.2(GMPPB):c.1077C>G (p.Ile359Met) rs1553691662
NM_021971.2(GMPPB):c.130-6T>G rs369862012
NM_021971.2(GMPPB):c.215G>A (p.Gly72Glu) rs1245162935
NM_021971.2(GMPPB):c.218T>C (p.Ile73Thr) rs1553692045
NM_021971.2(GMPPB):c.331G>A (p.Val111Met) rs141201072
NM_021971.2(GMPPB):c.374G>A (p.Arg125Gln) rs758366693
NM_021971.2(GMPPB):c.402+1G>A
NM_021971.2(GMPPB):c.459A>G (p.Thr153=) rs140968388
NM_021971.2(GMPPB):c.525G>T (p.Met175Ile)
NM_021971.2(GMPPB):c.562-9C>A rs183240200
NM_021971.2(GMPPB):c.569C>G (p.Pro190Arg) rs1559697016
NM_021971.2(GMPPB):c.629T>C (p.Met210Thr)
NM_021971.2(GMPPB):c.62C>A (p.Thr21Asn) rs1438380704
NM_021971.2(GMPPB):c.640+1G>A
NM_021971.2(GMPPB):c.656T>C (p.Ile219Thr)
NM_021971.2(GMPPB):c.758A>G (p.Asn253Ser) rs1559696765
NM_021971.2(GMPPB):c.790C>T (p.Gln264Ter)
NM_021971.2(GMPPB):c.792G>C (p.Gln264His) rs1559696652
NM_021971.2(GMPPB):c.831C>T (p.Gly277=) rs763262592
NM_021971.2(GMPPB):c.859C>T (p.Arg287Trp) rs142908436
NM_021971.2(GMPPB):c.877C>T (p.Arg293Trp) rs756682220
NM_021971.2(GMPPB):c.878G>A (p.Arg293Gln) rs748809549
NM_021971.2(GMPPB):c.953T>C (p.Val318Ala)
NM_021971.2(GMPPB):c.955C>T (p.Arg319Cys)
NM_021971.2(GMPPB):c.956G>A (p.Arg319His) rs768327938
NM_021971.2:c.109C>T
NM_021971.2:c.116A>G
NM_021971.2:c.160A>C
NM_021971.2:c.304G>C
NM_021971.2:c.395C>G
NM_021971.2:c.473G>C
NM_021971.2:c.757A>G
NM_021971.2:c.812A>G
NM_021971.2:c.863G>C
NM_021971.2:c.937C>T
NM_021971.2:c.94C>T

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