ClinVar Miner

List of variants in gene SLC16A12 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: 6
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HGVS dbSNP gnomAD frequency
NM_213606.4(SLC16A12):c.472T>C (p.Ser158Pro) rs150800688 0.00072
NM_213606.4(SLC16A12):c.122C>A (p.Ser41Tyr) rs1235291781 0.00001
NM_213606.4(SLC16A12):c.305-9T>C rs749441853 0.00001
NM_213606.4(SLC16A12):c.610C>T (p.Arg204Trp) rs758404955 0.00001
NM_213606.4(SLC16A12):c.758C>T (p.Ser253Phe) rs773706712 0.00001
NM_213606.4(SLC16A12):c.900_901del (p.Phe301fs) rs1564568302

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