ClinVar Miner

List of variants studied for Cardiomyopathy-hypotonia-lactic acidosis syndrome

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_002635.4(SLC25A3):c.*211T>A rs76488843 0.11857
NM_005888.3(SLC25A3):c.-78G>A rs28372744 0.04592
NM_002635.4(SLC25A3):c.436T>C (p.Leu146=) rs11544648 0.03180
NM_002635.4(SLC25A3):c.*221T>G rs115173420 0.02826
NM_005888.3(SLC25A3):c.-92G>A rs115763433 0.00509
NM_002635.4(SLC25A3):c.*102C>A rs74604883 0.00438
NM_002635.4(SLC25A3):c.*255T>G rs540509043 0.00205
NM_005888.3(SLC25A3):c.-74C>T rs532766014 0.00024
NM_002635.4(SLC25A3):c.471T>C (p.Tyr157=) rs531425336 0.00009
NM_002635.4(SLC25A3):c.*254A>G rs777877584 0.00008
NM_002635.4(SLC25A3):c.61C>T (p.Leu21=) rs148667033 0.00006
NM_002635.4(SLC25A3):c.*94T>C rs886049921 0.00003
NM_002635.4(SLC25A3):c.*316A>G rs958253516 0.00002
NM_002635.4(SLC25A3):c.158-303A>G rs745305932 0.00002
NM_002635.4(SLC25A3):c.312C>T (p.Asn104=) rs774087747 0.00002
NM_002635.4(SLC25A3):c.75T>C (p.Gly25=) rs972857493 0.00002
NM_002635.4(SLC25A3):c.*411T>C rs757599299 0.00001
NM_002635.4(SLC25A3):c.-4-7C>T rs766677386 0.00001
NM_002635.4(SLC25A3):c.4T>C (p.Phe2Leu) rs886049919 0.00001
NM_002635.4(SLC25A3):c.648C>T (p.Tyr216=) rs756464886 0.00001
NM_002635.4(SLC25A3):c.715C>T (p.Arg239Cys) rs772819565 0.00001
NM_005888.3(SLC25A3):c.-69G>A rs1272113129 0.00001
NM_002635.4(SLC25A3):c.*296G>T rs2097598160
NM_002635.4(SLC25A3):c.*360del rs886049922
NM_002635.4(SLC25A3):c.*429C>G rs2097598266
NM_002635.4(SLC25A3):c.-38C>T rs542602103
NM_002635.4(SLC25A3):c.1020A>G (p.Arg340=) rs1592980731
NM_002635.4(SLC25A3):c.147C>A (p.Ala49=) rs370367708
NM_002635.4(SLC25A3):c.49C>G (p.Pro17Ala) rs1294003725
NM_002635.4(SLC25A3):c.544A>G (p.Met182Val)
NM_002635.4(SLC25A3):c.596T>G (p.Leu199Trp) rs2097595072
NM_002635.4(SLC25A3):c.666C>G (p.Leu222=) rs771170406
NM_002635.4(SLC25A3):c.814+4C>T rs886049920
NM_002635.4(SLC25A3):c.814+5G>T rs200029342
NM_002635.4(SLC25A3):c.858G>T (p.Val286=) rs750516275
NM_002635.4(SLC25A3):c.883_895delinsCAGATAC (p.Gly295_Ser299delinsGlnIlePro) rs2097597579
NM_005888.3(SLC25A3):c.-120G>C rs774325459
NM_005888.3(SLC25A3):c.-61G>T rs886049918
NM_005888.4(SLC25A3):c.215G>A (p.Gly72Glu) rs104894375

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