ClinVar Miner

List of variants reported as uncertain significance for benign endocrine neoplasm by Baylor Genetics

Included ClinVar conditions (34):
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Minimum conflict level:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_017849.4(TMEM127):c.136A>G (p.Thr46Ala) rs144659242 0.00018
NM_002382.5(MAX):c.341A>C (p.Asn114Thr) rs772912674 0.00012
NM_017849.4(TMEM127):c.665C>T (p.Ala222Val) rs373951977 0.00011
NM_003000.3(SDHB):c.440A>G (p.Tyr147Cys) rs774568101 0.00010
NM_017849.4(TMEM127):c.88A>G (p.Ser30Gly) rs763476625 0.00010
NM_002382.5(MAX):c.25G>T (p.Val9Leu) rs201743423 0.00007
NM_017849.4(TMEM127):c.121A>G (p.Ile41Val) rs760633411 0.00006
NM_017849.4(TMEM127):c.280C>T (p.Arg94Trp) rs121908824 0.00006
NM_002382.5(MAX):c.56A>T (p.Gln19Leu) rs200547781 0.00004
NM_003000.3(SDHB):c.307A>G (p.Met103Val) rs140178341 0.00004
NM_017849.4(TMEM127):c.145G>A (p.Ala49Thr) rs577020327 0.00004
NM_002382.5(MAX):c.397G>A (p.Ala133Thr) rs750459929 0.00003
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg) rs121908820 0.00003
NM_017849.4(TMEM127):c.221A>G (p.Tyr74Cys) rs747804736 0.00003
NM_017849.4(TMEM127):c.281G>A (p.Arg94Gln) rs746831347 0.00003
NM_017849.4(TMEM127):c.379C>T (p.Arg127Cys) rs746883021 0.00003
NM_017849.4(TMEM127):c.398A>G (p.His133Arg) rs587782203 0.00003
NM_017849.4(TMEM127):c.413T>C (p.Leu138Pro) rs772714957 0.00003
NM_001365951.3(KIF1B):c.3434G>A (p.Arg1145His) rs373663596 0.00002
NM_002382.5(MAX):c.329A>C (p.Gln110Pro) rs775808138 0.00002
NM_002382.5(MAX):c.415G>A (p.Asp139Asn) rs772397458 0.00002
NM_017849.4(TMEM127):c.253A>G (p.Met85Val) rs771261665 0.00002
NM_017849.4(TMEM127):c.289G>A (p.Ala97Thr) rs752938517 0.00002
NM_017849.4(TMEM127):c.427G>A (p.Val143Ile) rs772153618 0.00002
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_002382.5(MAX):c.299G>A (p.Arg100His) rs776978293 0.00001
NM_002382.5(MAX):c.332T>G (p.Leu111Arg) rs1477107672 0.00001
NM_002382.5(MAX):c.357C>A (p.Asp119Glu) rs1175991420 0.00001
NM_002382.5(MAX):c.376G>A (p.Ala126Thr) rs779789251 0.00001
NM_002382.5(MAX):c.403G>A (p.Asp135Asn) rs201312694 0.00001
NM_002382.5(MAX):c.410G>A (p.Gly137Asp) rs771696396 0.00001
NM_002382.5(MAX):c.425C>T (p.Ser142Leu) rs760147253 0.00001
NM_002382.5(MAX):c.466C>T (p.Arg156Trp) rs768360710 0.00001
NM_002382.5(MAX):c.64G>T (p.Ala22Ser) rs1435018573 0.00001
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.133T>A (p.Cys45Ser) rs995979769 0.00001
NM_017849.4(TMEM127):c.154G>T (p.Ala52Ser) rs767257269 0.00001
NM_017849.4(TMEM127):c.158G>C (p.Trp53Ser) rs121908818 0.00001
NM_017849.4(TMEM127):c.166A>G (p.Ile56Val) rs751779219 0.00001
NM_017849.4(TMEM127):c.172G>A (p.Gly58Arg) rs764136807 0.00001
NM_017849.4(TMEM127):c.211G>A (p.Val71Met) rs142947571 0.00001
NM_017849.4(TMEM127):c.314T>C (p.Leu105Pro) rs766918841 0.00001
NM_017849.4(TMEM127):c.353C>T (p.Pro118Leu) rs769359648 0.00001
NM_017849.4(TMEM127):c.37C>T (p.Arg13Cys) rs1684395977 0.00001
NM_017849.4(TMEM127):c.383G>A (p.Arg128His) rs779277417 0.00001
NM_017849.4(TMEM127):c.496G>A (p.Gly166Arg) rs372120755 0.00001
NM_017849.4(TMEM127):c.49A>G (p.Ser17Gly) rs1249001227 0.00001
NM_017849.4(TMEM127):c.506T>A (p.Val169Asp) rs1364190464 0.00001
NM_017849.4(TMEM127):c.556G>C (p.Ala186Pro) rs764012422 0.00001
NM_017849.4(TMEM127):c.619G>A (p.Ala207Thr) rs756818796 0.00001
NM_017849.4(TMEM127):c.62G>A (p.Ser21Asn) rs1348645128 0.00001
NM_017849.4(TMEM127):c.642G>T (p.Met214Ile) rs1485424649 0.00001
NM_017849.4(TMEM127):c.658T>C (p.Tyr220His) rs1684141729 0.00001
NM_017849.4(TMEM127):c.67C>A (p.Leu23Met) rs749807415 0.00001
NM_002382.5(MAX):c.196A>G (p.Lys66Glu) rs2504199502
NM_002382.5(MAX):c.266A>C (p.Lys89Thr) rs2063103739
NM_002382.5(MAX):c.346C>T (p.Pro116Ser) rs1186625283
NM_002382.5(MAX):c.364C>A (p.Leu122Ile) rs2504174760
NM_002382.5(MAX):c.406G>C (p.Gly136Arg) rs140490467
NM_002382.5(MAX):c.413C>T (p.Ser138Leu) rs1176118785
NM_002382.5(MAX):c.417C>G (p.Asp139Glu) rs2139739918
NM_002382.5(MAX):c.47C>T (p.Pro16Leu) rs2063834899
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.130C>G (p.Leu44Val) rs754493061
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.188G>A (p.Arg63His) rs1187661049
NM_017849.4(TMEM127):c.200G>C (p.Gly67Ala) rs1573977675
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.340G>C (p.Asp114His) rs1684170746
NM_017849.4(TMEM127):c.400A>G (p.Ile134Val) rs762156788
NM_017849.4(TMEM127):c.416A>G (p.Gln139Arg) rs2467264370
NM_017849.4(TMEM127):c.433G>A (p.Gly145Ser) rs2104285272
NM_017849.4(TMEM127):c.443A>T (p.Tyr148Phe) rs1684152230
NM_017849.4(TMEM127):c.449C>G (p.Ala150Gly) rs2467264263
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.519C>A (p.Phe173Leu) rs758676810
NM_017849.4(TMEM127):c.526A>G (p.Ser176Gly) rs1553436876
NM_017849.4(TMEM127):c.545G>C (p.Gly182Ala) rs761885719
NM_017849.4(TMEM127):c.568G>A (p.Ala190Thr) rs373781978
NM_017849.4(TMEM127):c.584T>C (p.Leu195Pro) rs1573969123
NM_017849.4(TMEM127):c.598C>A (p.Pro200Thr) rs200351681
NM_017849.4(TMEM127):c.61A>T (p.Ser21Cys) rs2467285981
NM_017849.4(TMEM127):c.643G>C (p.Glu215Gln) rs2467262858
NM_017849.4(TMEM127):c.674A>G (p.Glu225Gly) rs1684140913
NM_017849.4(TMEM127):c.700C>G (p.Pro234Ala) rs780992481

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