ClinVar Miner

List of variants studied for benign neoplasm by OMIM

Included ClinVar conditions (127):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_004897.5(MINPP1):c.933+34T>A rs41299159 0.12000
NM_002253.4(KDR):c.1444T>C (p.Cys482Arg) rs34231037 0.02299
NM_000949.7(PRLR):c.508A>C (p.Ile170Leu) rs72478580 0.01896
NM_182925.5(FLT4):c.2860C>T (p.Pro954Ser) rs34255532 0.00275
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824 0.00004
NM_002253.4(KDR):c.3439C>T (p.Pro1147Ser) rs121917766 0.00003
NM_000551.4(VHL):c.499C>T (p.Arg167Trp) rs5030820 0.00001
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237 0.00001
NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys) rs367543286 0.00001
NM_002609.4(PDGFRB):c.1978C>A (p.Pro660Thr) rs144050370 0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352 0.00001
NM_032208.3(ANTXR1):c.976G>A (p.Ala326Thr) rs119475040 0.00001
NM_133171.5(ELMO2):c.1065+1G>A rs768410753 0.00001
NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys) rs121913479
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000435.3(NOTCH3):c.4556T>C (p.Leu1519Pro) rs367543285
NM_000545.8(HNF1A):c.872dup (p.Gly292fs) rs587776825
NM_000546.6(TP53):c.475_481dup (p.Ala161fs) rs863223301
NM_000546.6(TP53):c.854A>T (p.Glu285Val) rs121912667
NM_000551.4(VHL):c.188T>C (p.Leu63Pro) rs104893827
NM_000551.4(VHL):c.191G>C (p.Arg64Pro) rs104893826
NM_000551.4(VHL):c.277G>A (p.Gly93Ser) rs5030808
NM_001370259.2(MEN1):c.1654A>T (p.Thr552Ser) rs121913035
NM_002272.4(KRT4):c.1303G>A (p.Glu435Lys) rs62642055
NM_002272.4(KRT4):c.419_420insCAA (p.Gln140delinsHisLys) rs587776845
NM_002272.4(KRT4):c.432CAA[2] (p.Asn146del) rs587776844
NM_002524.5(NRAS):c.101C>T (p.Pro34Leu) rs397514553
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_003000.3(SDHB):c.299C>T (p.Ser100Phe) rs121917755
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_005343.4(HRAS):c.182A>G (p.Gln61Arg) rs121913233
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>T (p.Gly12Val) rs104894230
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005401.5(PTPN14):c.401_402insTT (p.Leu135fs) rs1558092113
NM_005401.5(PTPN14):c.581+60_669+877del
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly) rs121913274
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter) rs104894903
NM_015922.3(NSDHL):c.314C>T (p.Ala105Val) rs104894909
NM_015922.3(NSDHL):c.451G>T (p.Glu151Ter) rs104894905
NM_015922.3(NSDHL):c.544G>C (p.Ala182Pro) rs104894904
NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser) rs104894901
NM_015922.3(NSDHL):c.628C>T (p.Gln210Ter) rs104894902
NM_020975.6(RET):c.1900T>G (p.Cys634Gly) rs75076352
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.6(RET):c.1901G>C (p.Cys634Ser) rs75996173
NM_020975.6(RET):c.1901G>T (p.Cys634Phe) rs75996173
NM_020975.6(RET):c.1902C>G (p.Cys634Trp) rs77709286
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_024529.5(CDC73):c.685_688del (p.Arg229fs) rs760591174
NM_033116.4(NEK9):c.1817T>C (p.Ile573Thr) rs1555352529
NM_033116.4(NEK9):c.[1715G>T;1731+1G>T]
NM_033116.6(NEK9):c.500T>C (p.Ile167Thr) rs879253775
NM_133171.5(ELMO2):c.1802-1G>C rs886037918
NM_133171.5(ELMO2):c.2080del (p.Leu694fs) rs886037919
NM_153490.3(KRT13):c.332T>C (p.Leu111Pro) rs59897026
NM_153490.3(KRT13):c.356T>C (p.Leu119Pro) rs60440396

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