ClinVar Miner

List of variants in gene LOC130061792, TMC6, TMC8 studied for immune system disorder

Included ClinVar conditions (908):
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Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_152468.5(TMC8):c.77T>C (p.Met26Thr) rs145016347 0.02156
NM_152468.5(TMC8):c.69G>A (p.Glu23=) rs35748721 0.00612
NM_152468.5(TMC8):c.150-20_150-19del rs534081238 0.00050
NM_152468.5(TMC8):c.106G>A (p.Val36Met) rs753691901 0.00013
NM_152468.5(TMC8):c.118C>G (p.Pro40Ala) rs374017520 0.00013
NM_152468.5(TMC8):c.226C>T (p.Arg76Cys) rs772730789 0.00013
NM_152468.5(TMC8):c.141C>G (p.Arg47=) rs201039625 0.00010
NM_152468.5(TMC8):c.149+4G>T rs200226247 0.00009
NM_152468.5(TMC8):c.185G>A (p.Arg62His) rs757695775 0.00008
NM_152468.5(TMC8):c.150-10C>G rs1208728001 0.00006
NM_152468.5(TMC8):c.25T>C (p.Ser9Pro) rs779748966 0.00006
NM_152468.5(TMC8):c.35C>T (p.Ala12Val) rs748499539 0.00006
NM_152468.5(TMC8):c.54G>A (p.Pro18=) rs773629838 0.00004
NM_152468.5(TMC8):c.149+18G>T rs367591631 0.00003
NM_152468.5(TMC8):c.168G>A (p.Ala56=) rs905969219 0.00003
NM_152468.5(TMC8):c.102G>A (p.Thr34=) rs775802077 0.00002
NM_152468.5(TMC8):c.133G>C (p.Asp45His) rs779552203 0.00002
NM_152468.5(TMC8):c.137A>G (p.Lys46Arg) rs1296523340 0.00002
NM_152468.5(TMC8):c.144C>T (p.Leu48=) rs370228742 0.00002
NM_152468.5(TMC8):c.232C>T (p.Arg78Trp) rs1035555956 0.00002
NM_152468.5(TMC8):c.11C>T (p.Pro4Leu) rs867374058 0.00001
NM_152468.5(TMC8):c.127A>G (p.Met43Val) rs1305314590 0.00001
NM_152468.5(TMC8):c.157C>G (p.Arg53Gly) rs1417544539 0.00001
NM_152468.5(TMC8):c.165C>T (p.Pro55=) rs1366890047 0.00001
NM_152468.5(TMC8):c.175C>T (p.Gln59Ter) rs1598895511 0.00001
NM_152468.5(TMC8):c.194G>T (p.Arg65Leu) rs779428022 0.00001
NM_152468.5(TMC8):c.33G>C (p.Arg11=) rs944413239 0.00001
NM_152468.5(TMC8):c.94dup (p.Ser32fs) rs1568011732 0.00001
NM_152468.5(TMC8):c.-20_7del (p.Met1_Leu3del)
NM_152468.5(TMC8):c.105C>G (p.Pro35=)
NM_152468.5(TMC8):c.118C>T (p.Pro40Ser)
NM_152468.5(TMC8):c.141C>T (p.Arg47=) rs201039625
NM_152468.5(TMC8):c.150-12A>G rs2145574411
NM_152468.5(TMC8):c.150-18G>A
NM_152468.5(TMC8):c.150-3del rs1297138292
NM_152468.5(TMC8):c.157C>T (p.Arg53Trp) rs1417544539
NM_152468.5(TMC8):c.166G>C (p.Ala56Pro) rs1044475107
NM_152468.5(TMC8):c.186C>G (p.Arg62=)
NM_152468.5(TMC8):c.187T>C (p.Trp63Arg)
NM_152468.5(TMC8):c.193C>T (p.Arg65Trp) rs2074996382
NM_152468.5(TMC8):c.195G>A (p.Arg65=)
NM_152468.5(TMC8):c.209G>A (p.Arg70Gln) rs2145576595
NM_152468.5(TMC8):c.215C>A (p.Thr72Lys) rs2074997230
NM_152468.5(TMC8):c.2TGC[4] (p.Leu3_Pro4insLeu) rs1259899112
NM_152468.5(TMC8):c.31C>A (p.Arg11=)
NM_152468.5(TMC8):c.31C>G (p.Arg11Gly) rs1222145664
NM_152468.5(TMC8):c.34G>A (p.Ala12Thr)
NM_152468.5(TMC8):c.42G>A (p.Gly14=)
NM_152468.5(TMC8):c.47_48insCTG (p.Pro16_Glu17insTrp)
NM_152468.5(TMC8):c.56A>T (p.Glu19Val)
NM_152468.5(TMC8):c.60G>A (p.Glu20=) rs1420789594
NM_152468.5(TMC8):c.6G>A (p.Leu2=)
NM_152468.5(TMC8):c.70G>A (p.Ala24Thr) rs2074972673
NM_152468.5(TMC8):c.84G>A (p.Arg28=)
NM_152468.5(TMC8):c.91G>A (p.Gly31Ser)
NM_152468.5(TMC8):c.93C>T (p.Gly31=)
NM_152468.5(TMC8):c.95C>T (p.Ser32Phe) rs1217529235

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