ClinVar Miner

List of variants in gene combination TMC6, TMC8 reported as uncertain significance for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_152468.5(TMC8):c.250C>G (p.Leu84Val) rs968762906 0.00029
NM_152468.5(TMC8):c.268C>T (p.Leu90Phe) rs1222174878 0.00009
NM_152468.5(TMC8):c.248G>C (p.Arg83Pro) rs1021551980 0.00004
NM_152468.5(TMC8):c.277G>A (p.Gly93Arg) rs954490437 0.00001
NC_000017.10:g.(?_76109229)_(76127838_?)dup
NM_152468.5(TMC8):c.259G>C (p.Gly87Arg) rs1288621413
NM_152468.5(TMC8):c.271T>C (p.Trp91Arg) rs2145578233
NM_152468.5(TMC8):c.277G>C (p.Gly93Arg)

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