ClinVar Miner

List of variants reported as pathogenic for arthrogryposis multiplex congenita 2, neurogenic type by OMIM

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_018668.5(VPS33B):c.1225+5G>C rs398122407 0.00002
NM_018668.5(VPS33B):c.403+2T>A rs769333468 0.00002
NM_001193315.2(VIPAS39):c.1141C>T (p.Arg381Ter) rs778181495 0.00001
NM_001193315.2(VIPAS39):c.658C>T (p.Arg220Ter) rs200370925 0.00001
NM_018668.5(VPS33B):c.1509dup (p.Lys504fs) rs1209349503 0.00001
NM_001031711.3(ERGIC1):c.293T>A (p.Val98Glu) rs1554112524
NM_001193315.2(VIPAS39):c.177_179delinsAAA (p.Trp59_Ser60delinsTer) rs2139895315
NM_001193315.2(VIPAS39):c.2T>G (p.Met1Arg) rs267607172
NM_001193315.2(VIPAS39):c.535C>T (p.Gln179Ter) rs267607173
NM_001193315.2(VIPAS39):c.749_753del (p.Thr250fs) rs794726653
NM_001193315.2(VIPAS39):c.871C>T (p.Gln291Ter) rs267607171
NM_018668.5(VPS33B):c.1261_1262del (p.Gln421fs) rs398122408
NM_018668.5(VPS33B):c.1312C>T (p.Arg438Ter) rs121434384
NM_018668.5(VPS33B):c.1594C>T (p.Arg532Ter) rs121434383
NM_018668.5(VPS33B):c.240-577_290-156del rs1555460030
NM_018668.5(VPS33B):c.700+1G>A rs794726658
NM_018668.5(VPS33B):c.89T>C (p.Leu30Pro) rs121434385

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