ClinVar Miner

List of variants in gene combination LOC130061793, TMC8 reported as likely benign 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.393G>A (p.Val131=) rs146825313 0.00012
NM_152468.5(TMC8):c.369C>T (p.Ser123=) rs527473967 0.00007
NM_152468.5(TMC8):c.384A>C (p.Ala128=) rs776367736 0.00002
NM_152468.5(TMC8):c.370C>T (p.Leu124=) rs774017939 0.00001
NM_152468.5(TMC8):c.381C>T (p.Thr127=) rs1322234531 0.00001
NM_152468.5(TMC8):c.373C>T (p.Leu125=) rs547222751
NM_152468.5(TMC8):c.384A>G (p.Ala128=)
NM_152468.5(TMC8):c.414C>G (p.Leu138=)

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