ClinVar Miner

List of variants in gene combination ACTC1, LOC101928174 reported as uncertain significance by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Total variants: 26
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HGVS dbSNP
NM_005159.5(ACTC1):c.*3T>C rs727504415
NM_005159.5(ACTC1):c.1039A>G (p.Ile347Val) rs727505192
NM_005159.5(ACTC1):c.1084C>T (p.Gln362Ter) rs876657738
NM_005159.5(ACTC1):c.186del (p.Ser62fs) rs876657739
NM_005159.5(ACTC1):c.217A>G (p.Ile73Val) rs750951965
NM_005159.5(ACTC1):c.229A>G (p.Ile77Val) rs397517056
NM_005159.5(ACTC1):c.268C>T (p.His90Tyr) rs121912676
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met) rs397517057
NM_005159.5(ACTC1):c.310C>T (p.Pro104Ser) rs397517059
NM_005159.5(ACTC1):c.355G>C (p.Glu119Gln) rs397517060
NM_005159.5(ACTC1):c.372C>G (p.Ile124Met) rs397517061
NM_005159.5(ACTC1):c.383C>T (p.Thr128Ile) rs727504308
NM_005159.5(ACTC1):c.475G>A (p.Asp159Asn) rs397517063
NM_005159.5(ACTC1):c.532A>T (p.Met178Leu) rs1555418829
NM_005159.5(ACTC1):c.616+1G>A rs111904141
NM_005159.5(ACTC1):c.622C>T (p.Arg208Cys) rs727505179
NM_005159.5(ACTC1):c.635G>A (p.Arg212His) rs397517067
NM_005159.5(ACTC1):c.646G>T (p.Glu216Ter) rs1060499837
NM_005159.5(ACTC1):c.739G>A (p.Gly247Ser) rs727505330
NM_005159.5(ACTC1):c.756T>G (p.Ile252Met) rs371940910
NM_005159.5(ACTC1):c.76G>A (p.Asp26Asn) rs727504399
NM_005159.5(ACTC1):c.7G>C (p.Asp3His) rs397517069
NM_005159.5(ACTC1):c.808+3G>A rs397517070
NM_005159.5(ACTC1):c.83C>T (p.Ala28Val) rs397517072
NM_005159.5(ACTC1):c.850A>T (p.Ile284Phe) rs397517073
NM_005159.5(ACTC1):c.854T>C (p.Met285Thr) rs869025354

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