ClinVar Miner

List of variants studied for arthrogryposis multiplex congenita 2, neurogenic type by 3billion

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_018668.5(VPS33B):c.1509dup (p.Lys504fs) rs1209349503 0.00001
NM_018668.5(VPS33B):c.67C>T (p.Arg23Ter) rs1263540507 0.00001
NM_001193315.2(VIPAS39):c.907A>G (p.Ile303Val)
NM_018668.5(VPS33B):c.1602G>A (p.Trp534Ter) rs2151662496

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