ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 37
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HGVS dbSNP
NM_002635.4(SLC25A3):c.*102C>A rs74604883
NM_002635.4(SLC25A3):c.*211T>A rs76488843
NM_002635.4(SLC25A3):c.*221T>G rs115173420
NM_002635.4(SLC25A3):c.*254A>G
NM_002635.4(SLC25A3):c.*255T>G rs540509043
NM_002635.4(SLC25A3):c.*296G>T
NM_002635.4(SLC25A3):c.*316A>G
NM_002635.4(SLC25A3):c.*360del rs886049922
NM_002635.4(SLC25A3):c.*411T>C rs757599299
NM_002635.4(SLC25A3):c.*429C>G
NM_002635.4(SLC25A3):c.*94T>C rs886049921
NM_002635.4(SLC25A3):c.-38C>T rs542602103
NM_002635.4(SLC25A3):c.-4-7C>T rs766677386
NM_002635.4(SLC25A3):c.1020A>G (p.Arg340=)
NM_002635.4(SLC25A3):c.147C>A (p.Ala49=) rs370367708
NM_002635.4(SLC25A3):c.158-237G>A rs104894375
NM_002635.4(SLC25A3):c.158-303A>G rs745305932
NM_002635.4(SLC25A3):c.312C>T (p.Asn104=)
NM_002635.4(SLC25A3):c.436T>C (p.Leu146=) rs11544648
NM_002635.4(SLC25A3):c.471T>C (p.Tyr157=) rs531425336
NM_002635.4(SLC25A3):c.4T>C (p.Phe2Leu) rs886049919
NM_002635.4(SLC25A3):c.596T>G (p.Leu199Trp)
NM_002635.4(SLC25A3):c.61C>T (p.Leu21=)
NM_002635.4(SLC25A3):c.648C>T (p.Tyr216=)
NM_002635.4(SLC25A3):c.666C>G (p.Leu222=)
NM_002635.4(SLC25A3):c.715C>T (p.Arg239Cys) rs772819565
NM_002635.4(SLC25A3):c.75T>C (p.Gly25=)
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)
NM_005888.3(SLC25A3):c.-120G>C rs774325459
NM_005888.3(SLC25A3):c.-61G>T rs886049918
NM_005888.3(SLC25A3):c.-69G>A
NM_005888.3(SLC25A3):c.-74C>T rs532766014
NM_005888.3(SLC25A3):c.-78G>A rs28372744
NM_005888.3(SLC25A3):c.-92G>A rs115763433

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