ClinVar Miner

List of variants in gene VPS33A studied for multiple congenital anomalies/dysmorphic syndrome

Included ClinVar conditions (856):
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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_022916.6(VPS33A):c.1440+23G>A rs2271408 0.22485
NM_022916.6(VPS33A):c.282T>C (p.Ala94=) rs76521771 0.00502
NM_022916.6(VPS33A):c.624G>A (p.Arg208=) rs2277335 0.00267
NM_022916.6(VPS33A):c.1420A>G (p.Met474Val) rs771083966 0.00001
NM_022916.6(VPS33A):c.1492C>T (p.Arg498Trp) rs767748011 0.00001
NM_022916.6(VPS33A):c.1165-82GT[19] rs57522920
NM_022916.6(VPS33A):c.1457C>T (p.Ser486Leu) rs1188661941
NM_022916.6(VPS33A):c.599G>C (p.Arg200Pro) rs200032973

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