ClinVar Miner

List of variants reported as pathogenic for integumentary system benign neoplasm

Included ClinVar conditions (37):
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ClinVar version:
Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) rs121913105 0.00001
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
46;XX;ins(5;6)(p13;p24p25)dn
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.1138G>C (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) rs121913105
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) rs28928868
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg) rs121913101
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) rs397515514
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_002060.3(GJA4):c.121G>T (p.Gly41Cys) rs1640240555
NM_002067.5(GNA11):c.547C>T (p.Arg183Cys) rs1555702147
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_002401.5(MAP3K3):c.1323C>G (p.Ile441Met) rs2143631386
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_004985.5(KRAS):c.35G>C (p.Gly12Ala) rs121913529
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_005343.4(HRAS):c.179G>T (p.Gly60Val) rs730880460
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>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.35G>T (p.Gly12Val) rs104894230
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) rs104894226
NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) rs121913284
NM_006218.4(PIK3CA):c.1132T>C (p.Cys378Arg) rs1724507777
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys) rs1057519925
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly) rs121913274
NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys) rs1057519929
NM_006218.4(PIK3CA):c.3073A>G (p.Thr1025Ala) rs397517202
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_006218.4(PIK3CA):c.317G>T (p.Gly106Val) rs1057519930
NM_015922.3(NSDHL):c.1038_1041dup (p.Gly348fs) rs797045835
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_015922.3(NSDHL):c.757C>T (p.Gln253Ter) rs141571609
NM_015922.3(NSDHL):c.904del (p.Tyr302fs) rs587784225
NM_015922.3(NSDHL):c.906C>A (p.Tyr302Ter) rs587784226
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_023110.3(FGFR1):c.1671del (p.Leu557fs) rs1816433701
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) rs121909627
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_033360.4(KRAS):c.351A>C (p.Lys117Asn) rs770248150
NM_153490.3(KRT13):c.332T>C (p.Leu111Pro) rs59897026
NM_153490.3(KRT13):c.356T>C (p.Leu119Pro) rs60440396

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