ClinVar Miner

List of variants in gene combination MAP3K15, PDHA1 reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000284.4(PDHA1):c.*549A>G rs187525386 0.00126
NM_000284.4(PDHA1):c.*575T>C rs191995452 0.00114
NM_000284.4(PDHA1):c.*1297G>A rs778678656 0.00112
NM_000284.4(PDHA1):c.*432C>T rs754719295 0.00068
NM_000284.4(PDHA1):c.*729G>A rs376808450 0.00033
NM_000284.4(PDHA1):c.*1306G>A rs745566169 0.00018
NM_000284.4(PDHA1):c.*1458C>T rs923765752 0.00016
NM_000284.4(PDHA1):c.*1347C>T rs1241045421 0.00006
NM_000284.4(PDHA1):c.*1376C>T rs963546680 0.00001
NM_000284.4(PDHA1):c.*1779A>T rs758279534 0.00001
NM_000284.4(PDHA1):c.*1624T>C rs2063283398
NM_001001671.4(MAP3K15):c.3781-7G>C rs2147195977

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