ClinVar Miner

List of variants in gene ACTG2 reported as likely pathogenic for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001615.4(ACTG2):c.116C>G (p.Pro39Arg)
NM_001615.4(ACTG2):c.118C>T (p.Arg40Cys) rs587777385
NM_001615.4(ACTG2):c.119G>A (p.Arg40His) rs587777386
NM_001615.4(ACTG2):c.188G>T (p.Arg63Leu)
NM_001615.4(ACTG2):c.28G>A (p.Val10Met)
NM_001615.4(ACTG2):c.337C>G (p.Pro113Ala) rs1573468797
NM_001615.4(ACTG2):c.348C>A (p.Asn116Lys) rs757905857
NM_001615.4(ACTG2):c.439G>C (p.Gly147Arg) rs2104815901
NM_001615.4(ACTG2):c.442C>T (p.Arg148Cys) rs587777383
NM_001615.4(ACTG2):c.443G>T (p.Arg148Leu) rs730880256
NM_001615.4(ACTG2):c.588G>C (p.Glu196Asp) rs140943831
NM_001615.4(ACTG2):c.589_613+163del rs1680192455
NM_001615.4(ACTG2):c.590G>C (p.Arg197Thr) rs2104821169
NM_001615.4(ACTG2):c.593G>T (p.Gly198Val)
NM_001615.4(ACTG2):c.632G>A (p.Arg211Gln) rs1553396458
NM_001615.4(ACTG2):c.968C>T (p.Pro323Leu) rs2104825201

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