ClinVar Miner

List of variants in gene combination LOC129931218, SLC16A1 reported as uncertain significance for hyperinsulinism

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_003051.3(SLC16A1):c.-349G>A rs750771668 0.00086
NM_003051.3(SLC16A1):c.-248G>T rs762453730 0.00041
NM_003051.3(SLC16A1):c.-360G>A rs758825428 0.00022
NM_003051.4(SLC16A1):c.-201T>A rs753315328 0.00021
NM_003051.3(SLC16A1):c.-218G>A rs761334745 0.00004
NM_003051.3(SLC16A1):c.-324T>G rs1019615427 0.00003
NM_003051.4(SLC16A1):c.-163T>C rs886045088 0.00001
NM_003051.3(SLC16A1):c.-214C>G rs183726141
NM_003051.3(SLC16A1):c.-226G>A rs886045089
NM_003051.3(SLC16A1):c.-249C>T rs60953496
NM_003051.3(SLC16A1):c.-313T>C rs886045090
NM_003051.3(SLC16A1):c.-314A>G rs886045091
NM_003051.3(SLC16A1):c.-316G>A rs1313637478

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