ClinVar Miner

List of variants in gene ELMO2 studied for benign neoplasm

Included ClinVar conditions (127):
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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_133171.5(ELMO2):c.1980T>C (p.Asp660=) rs2257495 0.98384
NM_133171.5(ELMO2):c.963G>A (p.Arg321=) rs41310805 0.01127
NM_133171.5(ELMO2):c.1134G>A (p.Leu378=) rs8124302 0.00264
NM_133171.5(ELMO2):c.1416+9C>G rs770529533 0.00002
NM_133171.5(ELMO2):c.1065+1G>A rs768410753 0.00001
NM_133171.5(ELMO2):c.1447C>T (p.Arg483Ter) rs1372506599 0.00001
NM_133171.5(ELMO2):c.1065+1G>T
NM_133171.5(ELMO2):c.1279+19del rs76979752
NM_133171.5(ELMO2):c.1525C>T (p.Arg509Ter) rs1568748859
NM_133171.5(ELMO2):c.1802-1G>C rs886037918
NM_133171.5(ELMO2):c.2080del (p.Leu694fs) rs886037919
NM_133171.5(ELMO2):c.311dup (p.Met104fs) rs2145827538

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