ClinVar Miner

List of variants studied for benign neoplasm by Baylor Genetics

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_002382.5(MAX):c.341A>C (p.Asn114Thr) rs772912674 0.00012
NM_017849.4(TMEM127):c.665C>T (p.Ala222Val) rs373951977 0.00012
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_017849.4(TMEM127):c.49A>G (p.Ser17Gly) rs1249001227 0.00008
NM_017849.4(TMEM127):c.121A>G (p.Ile41Val) rs760633411 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_017849.4(TMEM127):c.217G>C (p.Gly73Arg) rs121908820 0.00004
NM_017849.4(TMEM127):c.379C>T (p.Arg127Cys) rs746883021 0.00003
NM_017849.4(TMEM127):c.464T>A (p.Leu155Ter) rs886039439 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.397G>A (p.Ala133Thr) rs750459929 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_000435.3(NOTCH3):c.214G>A (p.Val72Met) rs2046938247 0.00001
NM_002382.5(MAX):c.299G>A (p.Arg100His) rs776978293 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_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.166A>G (p.Ile56Val) rs751779219 0.00001
NM_017849.4(TMEM127):c.172G>A (p.Gly58Arg) rs764136807 0.00001
NM_017849.4(TMEM127):c.353C>T (p.Pro118Leu) rs769359648 0.00001
NM_017849.4(TMEM127):c.383G>A (p.Arg128His) rs779277417 0.00001
NM_017849.4(TMEM127):c.469C>T (p.Gln157Ter) rs780133289 0.00001
NM_017849.4(TMEM127):c.506T>A (p.Val169Asp) rs1364190464 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.67C>A (p.Leu23Met) rs749807415 0.00001
NM_023110.3(FGFR1):c.166C>T (p.Arg56Trp) rs1034848904 0.00001
NM_000435.3(NOTCH3):c.5114+11T>G rs2046721049
NM_002382.5(MAX):c.196A>G (p.Lys66Glu)
NM_002382.5(MAX):c.266A>C (p.Lys89Thr)
NM_002382.5(MAX):c.357C>A (p.Asp119Glu)
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.64G>T (p.Ala22Ser)
NM_003000.3(SDHB):c.166_170del (p.Pro56fs) rs786202100
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg) rs876658477
NM_015922.3(NSDHL):c.387del (p.Ile129fs)
NM_017849.4(TMEM127):c.110G>A (p.Gly37Asp)
NM_017849.4(TMEM127):c.112G>T (p.Ala38Ser) rs1456398772
NM_017849.4(TMEM127):c.117_120del (p.Ile41fs) rs121908816
NM_017849.4(TMEM127):c.130C>G (p.Leu44Val)
NM_017849.4(TMEM127):c.13G>A (p.Gly5Arg) rs786202314
NM_017849.4(TMEM127):c.248del (p.Phe83fs) rs587781773
NM_017849.4(TMEM127):c.24_32del (p.Leu9_Gly11del) rs1684396239
NM_017849.4(TMEM127):c.265_268del (p.Thr89fs) rs121908822
NM_017849.4(TMEM127):c.29C>T (p.Pro10Leu)
NM_017849.4(TMEM127):c.340G>C (p.Asp114His)
NM_017849.4(TMEM127):c.37C>T (p.Arg13Cys)
NM_017849.4(TMEM127):c.416A>G (p.Gln139Arg)
NM_017849.4(TMEM127):c.433G>A (p.Gly145Ser)
NM_017849.4(TMEM127):c.443A>T (p.Tyr148Phe) rs1684152230
NM_017849.4(TMEM127):c.44G>T (p.Arg15Leu) rs2104308338
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.598C>A (p.Pro200Thr) rs200351681
NM_017849.4(TMEM127):c.61A>T (p.Ser21Cys)
NM_017849.4(TMEM127):c.643G>C (p.Glu215Gln)
NM_017849.4(TMEM127):c.674A>G (p.Glu225Gly) rs1684140913
NM_023110.3(FGFR1):c.1694C>T (p.Ser565Phe) rs768223019
NM_023110.3(FGFR1):c.289G>T (p.Gly97Cys) rs1260404537
NM_133171.5(ELMO2):c.1802-1G>C rs886037918

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