ClinVar Miner

List of variants in gene HADHA reported as uncertain significance for hypertrophic cardiomyopathy

Included ClinVar conditions (244):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_000182.5(HADHA):c.652G>C (p.Val218Leu) rs71441018 0.00050
NM_000182.5(HADHA):c.79C>T (p.Arg27Cys) rs143832445 0.00031
NM_000182.5(HADHA):c.325G>A (p.Ala109Thr) rs368388214 0.00016
NM_000182.5(HADHA):c.810G>A (p.Ala270=) rs376632479 0.00010
NM_000182.5(HADHA):c.975+6C>T rs766717752 0.00006
NM_000182.5(HADHA):c.1003G>A (p.Glu335Lys) rs769821069 0.00004
NM_000182.5(HADHA):c.316A>G (p.Met106Val) rs143122454 0.00004
NM_000182.5(HADHA):c.323C>A (p.Ala108Asp) rs762296285 0.00004
NM_000182.5(HADHA):c.585T>A (p.Pro195=) rs202034466 0.00004
NM_000182.5(HADHA):c.858G>A (p.Val286=) rs373864418 0.00004
NM_000182.5(HADHA):c.896C>A (p.Pro299His) rs905722226 0.00004
NM_000182.5(HADHA):c.41C>T (p.Ser14Phe) rs765213828 0.00003
NM_000182.5(HADHA):c.199G>C (p.Glu67Gln) rs781303622 0.00002
NM_000182.5(HADHA):c.386A>G (p.Lys129Arg) rs769625802 0.00002
NM_000182.5(HADHA):c.560G>C (p.Arg187Thr) rs146667859 0.00002
NM_000182.5(HADHA):c.677-3T>C rs376306806 0.00002
NM_000182.5(HADHA):c.677G>A (p.Gly226Glu) rs143919136 0.00002
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser) rs752317877 0.00002
NM_000182.5(HADHA):c.189A>G (p.Thr63=) rs748187062 0.00001
NM_000182.5(HADHA):c.241G>A (p.Ala81Thr) rs1281408938 0.00001
NM_000182.5(HADHA):c.27C>T (p.Ile9=) rs1453533016 0.00001
NM_000182.5(HADHA):c.341A>G (p.Gln114Arg) rs145798498 0.00001
NM_000182.5(HADHA):c.425A>G (p.Asn142Ser) rs200549951 0.00001
NM_000182.5(HADHA):c.489A>T (p.Lys163Asn) rs1347586924 0.00001
NM_000182.5(HADHA):c.509G>A (p.Gly170Asp) rs746937892 0.00001
NM_000182.5(HADHA):c.646_657dup (p.Gly216_Asp219dup) rs1316714458 0.00001
NM_000182.5(HADHA):c.67+3G>A rs759265828 0.00001
NM_000182.5(HADHA):c.68-414A>G rs1045384430 0.00001
NM_000182.5(HADHA):c.869T>C (p.Val290Ala) rs759968341 0.00001
NM_000182.5(HADHA):c.911T>C (p.Ile304Thr) rs369774960 0.00001
NM_000182.5(HADHA):c.914T>C (p.Ile305Thr) rs137852774 0.00001
NM_000182.5(HADHA):c.982G>A (p.Gly328Arg) rs796051970 0.00001
NC_000002.11:g.(?_26414119)_(26418121_?)dup
NM_000182.4(HADHA):c.-37T>C rs528818728
NM_000182.5(HADHA):c.1039G>A (p.Val347Ile)
NM_000182.5(HADHA):c.1049A>G (p.Lys350Arg) rs757845324
NM_000182.5(HADHA):c.130G>A (p.Gly44Arg)
NM_000182.5(HADHA):c.134T>G (p.Val45Gly)
NM_000182.5(HADHA):c.13C>T (p.Arg5Trp)
NM_000182.5(HADHA):c.157C>A (p.Arg53=) rs147103714
NM_000182.5(HADHA):c.161T>G (p.Ile54Ser) rs2147785483
NM_000182.5(HADHA):c.16G>C (p.Ala6Pro) rs150565988
NM_000182.5(HADHA):c.173A>G (p.Asn58Ser)
NM_000182.5(HADHA):c.230A>G (p.Asn77Ser)
NM_000182.5(HADHA):c.252A>C (p.Gln84His) rs2147784410
NM_000182.5(HADHA):c.265G>A (p.Val89Ile)
NM_000182.5(HADHA):c.269T>G (p.Leu90Arg) rs2147784395
NM_000182.5(HADHA):c.282G>C (p.Lys94Asn)
NM_000182.5(HADHA):c.2TGG[1] (p.Val2del) rs1553316724
NM_000182.5(HADHA):c.362A>G (p.Gln121Arg)
NM_000182.5(HADHA):c.403A>G (p.Lys135Glu) rs794727700
NM_000182.5(HADHA):c.431C>T (p.Ser144Phe) rs758107197
NM_000182.5(HADHA):c.454-13C>T rs367636661
NM_000182.5(HADHA):c.467G>A (p.Cys156Tyr) rs1670643151
NM_000182.5(HADHA):c.496A>G (p.Lys166Glu)
NM_000182.5(HADHA):c.512C>T (p.Thr171Ile)
NM_000182.5(HADHA):c.560G>A (p.Arg187Lys)
NM_000182.5(HADHA):c.573G>A (p.Met191Ile) rs2147781167
NM_000182.5(HADHA):c.574-4dup rs763636903
NM_000182.5(HADHA):c.623G>A (p.Arg208His)
NM_000182.5(HADHA):c.676+6T>C rs886055863
NM_000182.5(HADHA):c.704G>A (p.Arg235Gln)
NM_000182.5(HADHA):c.711A>G (p.Ile237Met)
NM_000182.5(HADHA):c.713A>C (p.Glu238Ala)
NM_000182.5(HADHA):c.734T>G (p.Ile245Ser)
NM_000182.5(HADHA):c.73A>G (p.Ile25Val)
NM_000182.5(HADHA):c.743C>T (p.Ala248Val) rs199688741
NM_000182.5(HADHA):c.767T>A (p.Ile256Asn) rs1490396477
NM_000182.5(HADHA):c.785A>C (p.Lys262Thr)
NM_000182.5(HADHA):c.799+5G>A
NM_000182.5(HADHA):c.800A>G (p.Lys267Arg)
NM_000182.5(HADHA):c.808G>A (p.Ala270Thr) rs1574615066
NM_000182.5(HADHA):c.80G>A (p.Arg27His) rs200145855
NM_000182.5(HADHA):c.80G>T (p.Arg27Leu) rs200145855
NM_000182.5(HADHA):c.901C>A (p.Pro301Thr)
NM_000182.5(HADHA):c.932G>C (p.Gly311Ala) rs886055862
NM_000182.5(HADHA):c.944G>A (p.Gly315Glu)
NM_000182.5(HADHA):c.975G>A (p.Gln325=) rs751970693
NM_000182.5(HADHA):c.995T>C (p.Met332Thr)
NM_000182.5(HADHA):c.995T>G (p.Met332Arg) rs752285354
Single allele

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