ClinVar Miner

List of variants in gene combination ACTC1, LOC101928174 reported as likely pathogenic by GeneDx

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Total variants: 14
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NM_005159.5(ACTC1):c.10G>C (p.Asp4His) rs730880408
NM_005159.5(ACTC1):c.1112T>C (p.Ile371Thr) rs730880407
NM_005159.5(ACTC1):c.309C>A (p.His103Gln) rs769303249
NM_005159.5(ACTC1):c.310C>T (p.Pro104Ser) rs397517059
NM_005159.5(ACTC1):c.475G>A (p.Asp159Asn) rs397517063
NM_005159.5(ACTC1):c.500T>C (p.Ile167Thr) rs730880409
NM_005159.5(ACTC1):c.806T>C (p.Ile269Thr) rs397517071
NM_005159.5(ACTC1):c.812T>C (p.Met271Thr) rs730880401
NM_005159.5(ACTC1):c.866T>C (p.Ile289Thr) rs727504379
NM_005159.5(ACTC1):c.886T>C (p.Tyr296His) rs730880402
NM_005159.5(ACTC1):c.941G>A (p.Arg314His) rs121912673
NM_005159.5(ACTC1):c.952G>A (p.Glu318Lys) rs730880403
NM_005159.5(ACTC1):c.986T>C (p.Ile329Thr) rs730880410
NM_005159.5(ACTC1):c.998C>T (p.Ala333Val) rs730880406

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