ClinVar Miner

List of variants in gene LOC129934333, TMEM127 studied for benign endocrine neoplasm

Included ClinVar conditions (34):
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Gene type:
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_017849.4(TMEM127):c.-87C>T rs527792197 0.00319
NM_017849.4(TMEM127):c.-59C>T rs542087360 0.00093
NM_017849.4(TMEM127):c.88A>G (p.Ser30Gly) rs763476625 0.00010
NM_017849.4(TMEM127):c.121A>G (p.Ile41Val) rs760633411 0.00006
NM_017849.4(TMEM127):c.52C>T (p.Pro18Ser) rs1452142786 0.00002
NM_017849.4(TMEM127):c.80C>T (p.Pro27Leu) rs983504110 0.00002
NM_017849.4(TMEM127):c.101C>G (p.Ala34Gly) rs1451389209 0.00001
NM_017849.4(TMEM127):c.10C>T (p.Pro4Ser) rs1024081498 0.00001
NM_017849.4(TMEM127):c.12C>T (p.Pro4=) rs1406470818 0.00001
NM_017849.4(TMEM127):c.37C>T (p.Arg13Cys) rs1684395977 0.00001
NM_017849.4(TMEM127):c.49A>G (p.Ser17Gly) rs1249001227 0.00001
NM_017849.4(TMEM127):c.62G>A (p.Ser21Asn) rs1348645128 0.00001
NM_017849.4(TMEM127):c.67C>A (p.Leu23Met) rs749807415 0.00001
NM_017849.4(TMEM127):c.-114C>T rs1684402630
NM_017849.4(TMEM127):c.-131-7C>T rs886056450
NM_017849.4(TMEM127):c.-18C>T rs121908813
NM_017849.4(TMEM127):c.-37A>G rs886056449
NM_017849.4(TMEM127):c.110G>A (p.Gly37Asp) rs1684393209
NM_017849.4(TMEM127):c.112G>T (p.Ala38Ser) rs1456398772
NM_017849.4(TMEM127):c.115_116del (p.Leu39fs) rs2467285734
NM_017849.4(TMEM127):c.117_120del (p.Ile41fs) rs121908816
NM_017849.4(TMEM127):c.13G>A (p.Gly5Arg) rs786202314
NM_017849.4(TMEM127):c.17G>T (p.Gly6Val) rs2467286322
NM_017849.4(TMEM127):c.24_32del (p.Leu9_Gly11del) rs1684396239
NM_017849.4(TMEM127):c.29C>T (p.Pro10Leu) rs2467286250
NM_017849.4(TMEM127):c.2T>C (p.Met1Thr) rs1684398953
NM_017849.4(TMEM127):c.3G>T (p.Met1Ile) rs121908814
NM_017849.4(TMEM127):c.44G>T (p.Arg15Leu) rs2104308338
NM_017849.4(TMEM127):c.50G>T (p.Ser17Ile) rs1223613323
NM_017849.4(TMEM127):c.59G>T (p.Gly20Val)
NM_017849.4(TMEM127):c.61A>T (p.Ser21Cys) rs2467285981
NM_017849.4(TMEM127):c.76C>T (p.Gln26Ter) rs121908815

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