ClinVar Miner

List of variants in gene combination ACTC1, GJD2-DT reported as likely pathogenic for cardiomyopathy

Included ClinVar conditions (519):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met) rs397517057 0.00004
NM_005159.5(ACTC1):c.941G>A (p.Arg314His) rs121912673 0.00003
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) rs193922680 0.00001
NM_005159.5(ACTC1):c.155A>C (p.Lys52Thr) rs2140432240
NM_005159.5(ACTC1):c.275_277del (p.Phe92del) rs730880388
NM_005159.5(ACTC1):c.281A>G (p.Asn94Ser) rs767734253
NM_005159.5(ACTC1):c.312del (p.Thr105fs) rs1891747424
NM_005159.5(ACTC1):c.524_525insC (p.Ala176fs) rs1555418832
NM_005159.5(ACTC1):c.553C>T (p.Arg185Trp) rs397517065
NM_005159.5(ACTC1):c.581T>A (p.Ile194Asn)
NM_005159.5(ACTC1):c.635G>A (p.Arg212His) rs397517067
NM_005159.5(ACTC1):c.664G>A (p.Ala222Thr) rs1555418793
NM_005159.5(ACTC1):c.67T>C (p.Phe23Leu) rs193922681
NM_005159.5(ACTC1):c.725A>G (p.Tyr242Cys) rs2140430561
NM_005159.5(ACTC1):c.740G>A (p.Gly247Asp) rs1566967399
NM_005159.5(ACTC1):c.793C>G (p.Gln265Glu) rs727504323
NM_005159.5(ACTC1):c.806T>C (p.Ile269Thr) rs397517071
NM_005159.5(ACTC1):c.866T>C (p.Ile289Thr) rs727504379
NM_005159.5(ACTC1):c.951G>T (p.Lys317Asn)
NM_005159.5(ACTC1):c.968C>T (p.Ala323Val) rs730880404

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