ClinVar Miner

List of variants in gene EVC2 reported as likely pathogenic for hereditary epidermal appendage anomaly

Included ClinVar conditions (216):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 158
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HGVS dbSNP gnomAD frequency
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter) rs767072839 0.00006
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196 0.00005
NM_147127.5(EVC2):c.229-2A>G rs769799880 0.00004
NM_147127.5(EVC2):c.264C>A (p.Cys88Ter) rs965707319 0.00003
NM_147127.5(EVC2):c.3659+2T>C rs200300612 0.00003
NM_147127.5(EVC2):c.1896C>A (p.Tyr632Ter) rs779707723 0.00002
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter) rs760382778 0.00002
NM_147127.5(EVC2):c.2829+1G>A rs752255602 0.00002
NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter) rs376133710 0.00002
NM_147127.5(EVC2):c.1655_1658del (p.Gly552fs) rs1159758018 0.00001
NM_147127.5(EVC2):c.1949_1963del (p.Phe650_Lys655delinsTer) rs1431987950 0.00001
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206 0.00001
NM_147127.5(EVC2):c.229-1G>T rs1214848359 0.00001
NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter) rs770918273 0.00001
NM_147127.5(EVC2):c.3361-2A>G rs1036371676 0.00001
NM_147127.5(EVC2):c.3361-2del rs757914735 0.00001
NM_147127.5(EVC2):c.450+2T>C rs781096099 0.00001
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr) rs761707323 0.00001
NM_147127.5(EVC2):c.62dup (p.Ala22fs) rs1430962566 0.00001
NM_147127.5(EVC2):c.706+2T>C rs1360260333 0.00001
NM_147127.5(EVC2):c.745C>T (p.Gln249Ter) rs1236566474 0.00001
NM_147127.5(EVC2):c.893del (p.His298fs) rs777505711 0.00001
NC_000004.11:g.(?_5567008)_(5587839_?)dup
NC_000004.11:g.(?_5612949)_(5633604_?)del
NC_000004.11:g.(?_5630335)_(5635926_?)del
NC_000004.11:g.(?_5630338)_(5635928_?)del
NM_147127.5(EVC2):c.1012C>T (p.Gln338Ter)
NM_147127.5(EVC2):c.105_126dup (p.Gly43fs) rs1553855127
NM_147127.5(EVC2):c.1145+2T>G
NM_147127.5(EVC2):c.1145+2del
NM_147127.5(EVC2):c.117G>A (p.Trp39Ter) rs2151750059
NM_147127.5(EVC2):c.133C>T (p.Gln45Ter) rs1477102573
NM_147127.5(EVC2):c.142_151del (p.Asp49fs) rs1221185345
NM_147127.5(EVC2):c.1471-1G>C rs1553837446
NM_147127.5(EVC2):c.1471-2168_1835del
NM_147127.5(EVC2):c.1511del (p.Gly504fs)
NM_147127.5(EVC2):c.1522G>T (p.Glu508Ter)
NM_147127.5(EVC2):c.1551_1552insTTTCT (p.Gln518fs)
NM_147127.5(EVC2):c.1552delinsGAGACAGT (p.Gln518fs)
NM_147127.5(EVC2):c.1595del (p.Phe532fs)
NM_147127.5(EVC2):c.1680_1681del (p.Lys560fs)
NM_147127.5(EVC2):c.1710+1G>A rs2108851279
NM_147127.5(EVC2):c.1710+2T>C rs2108851273
NM_147127.5(EVC2):c.1711-1G>A rs1553836169
NM_147127.5(EVC2):c.1852delinsTCTTT (p.Ala618fs)
NM_147127.5(EVC2):c.1872_1873delinsA (p.Gln625fs)
NM_147127.5(EVC2):c.1882G>T (p.Glu628Ter) rs186197620
NM_147127.5(EVC2):c.1887-1G>A rs1490912913
NM_147127.5(EVC2):c.1896C>G (p.Tyr632Ter)
NM_147127.5(EVC2):c.194_198dup (p.Ser67fs) rs992326794
NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter) rs1367694162
NM_147127.5(EVC2):c.1997dup (p.Leu667fs)
NM_147127.5(EVC2):c.199_208del (p.Ser67fs) rs1420414097
NM_147127.5(EVC2):c.2005C>T (p.Gln669Ter)
NM_147127.5(EVC2):c.2019dup (p.Lys674Ter) rs2108843158
NM_147127.5(EVC2):c.202_211dup (p.Pro71fs) rs1553855074
NM_147127.5(EVC2):c.2041C>T (p.Gln681Ter)
NM_147127.5(EVC2):c.2046+1G>A rs762947212
NM_147127.5(EVC2):c.2046+1G>C rs762947212
NM_147127.5(EVC2):c.2046+1G>T rs762947212
NM_147127.5(EVC2):c.2047-1G>T
NM_147127.5(EVC2):c.2047-2A>G rs1553833239
NM_147127.5(EVC2):c.204_210dup (p.Pro71fs)
NM_147127.5(EVC2):c.2053del (p.Glu685fs)
NM_147127.5(EVC2):c.2122_2125delinsAGA (p.His708fs)
NM_147127.5(EVC2):c.2219delinsTTTCT (p.Thr740fs)
NM_147127.5(EVC2):c.222_228+21del rs1484464278
NM_147127.5(EVC2):c.2239_2243del (p.Ala747fs)
NM_147127.5(EVC2):c.228+2T>G
NM_147127.5(EVC2):c.2320C>T (p.Gln774Ter)
NM_147127.5(EVC2):c.2364del (p.Glu789fs)
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter) rs1577170055
NM_147127.5(EVC2):c.2394_2395del (p.Asp799fs)
NM_147127.5(EVC2):c.2409_2419del (p.Gln804fs)
NM_147127.5(EVC2):c.2501+1G>T
NM_147127.5(EVC2):c.2501+2T>G
NM_147127.5(EVC2):c.257_260del (p.Val86fs)
NM_147127.5(EVC2):c.2706+1G>A rs2108833043
NM_147127.5(EVC2):c.2707-1G>A
NM_147127.5(EVC2):c.2707-1G>T rs749251178
NM_147127.5(EVC2):c.2707-2A>G
NM_147127.5(EVC2):c.2737A>T (p.Lys913Ter)
NM_147127.5(EVC2):c.2764A>T (p.Lys922Ter)
NM_147127.5(EVC2):c.2829+2T>C
NM_147127.5(EVC2):c.2829+2T>G
NM_147127.5(EVC2):c.2830-1G>A rs1553818428
NM_147127.5(EVC2):c.2830-1G>T rs1553818428
NM_147127.5(EVC2):c.2842_2848del (p.Leu948fs)
NM_147127.5(EVC2):c.2851G>T (p.Glu951Ter)
NM_147127.5(EVC2):c.2855_2858delinsCACTCA (p.Arg952fs)
NM_147127.5(EVC2):c.2856_2857del (p.Arg952fs)
NM_147127.5(EVC2):c.2878G>T (p.Glu960Ter)
NM_147127.5(EVC2):c.2881G>T (p.Gly961Ter)
NM_147127.5(EVC2):c.2893C>T (p.Gln965Ter)
NM_147127.5(EVC2):c.2945dup (p.Ser983fs)
NM_147127.5(EVC2):c.2958del (p.Ala987fs)
NM_147127.5(EVC2):c.2974C>T (p.Gln992Ter)
NM_147127.5(EVC2):c.2989G>T (p.Glu997Ter)
NM_147127.5(EVC2):c.3043G>T (p.Glu1015Ter)
NM_147127.5(EVC2):c.3057+1G>A rs1307502841
NM_147127.5(EVC2):c.3058-1G>C
NM_147127.5(EVC2):c.3058-1G>T
NM_147127.5(EVC2):c.3058-2A>G rs760066386
NM_147127.5(EVC2):c.3080_3107del (p.Lys1027fs) rs1391194715
NM_147127.5(EVC2):c.30dup (p.Thr11fs) rs1442303442
NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter) rs886037764
NM_147127.5(EVC2):c.3169_3182del (p.Ile1057fs)
NM_147127.5(EVC2):c.316A>T (p.Lys106Ter)
NM_147127.5(EVC2):c.3239del (p.Lys1080fs) rs1291275281
NM_147127.5(EVC2):c.3272+1G>T
NM_147127.5(EVC2):c.3273-2A>C rs2108777040
NM_147127.5(EVC2):c.3273-2del rs768380281
NM_147127.5(EVC2):c.3279_3282del (p.Glu1094fs)
NM_147127.5(EVC2):c.3286C>T (p.Gln1096Ter)
NM_147127.5(EVC2):c.3360+1G>A rs1553815019
NM_147127.5(EVC2):c.3361-255_3481del
NM_147127.5(EVC2):c.3411del (p.Thr1138fs)
NM_147127.5(EVC2):c.3458_3476del (p.Pro1153fs) rs778793911
NM_147127.5(EVC2):c.3459_3460del (p.Gln1154fs)
NM_147127.5(EVC2):c.3535C>T (p.Gln1179Ter)
NM_147127.5(EVC2):c.3558-2A>G
NM_147127.5(EVC2):c.3598C>T (p.Arg1200Ter) rs1305301849
NM_147127.5(EVC2):c.35G>A (p.Trp12Ter)
NM_147127.5(EVC2):c.3660-2A>G rs1553811863
NM_147127.5(EVC2):c.380T>A (p.Leu127Ter) rs2151736638
NM_147127.5(EVC2):c.386del (p.Ala129fs)
NM_147127.5(EVC2):c.3G>C (p.Met1Ile)
NM_147127.5(EVC2):c.437_438del (p.Ile146fs)
NM_147127.5(EVC2):c.449del (p.Leu150fs)
NM_147127.5(EVC2):c.450+1G>A rs1447633595
NM_147127.5(EVC2):c.450+1G>C
NM_147127.5(EVC2):c.450+1del rs1553852469
NM_147127.5(EVC2):c.450+2T>G
NM_147127.5(EVC2):c.451-1_452del rs1721107398
NM_147127.5(EVC2):c.451-2A>G rs1553851870
NM_147127.5(EVC2):c.466del (p.Arg156fs)
NM_147127.5(EVC2):c.469G>T (p.Glu157Ter)
NM_147127.5(EVC2):c.50dup (p.Leu18fs) rs1553855151
NM_147127.5(EVC2):c.520-2A>T
NM_147127.5(EVC2):c.534dup (p.Glu179Ter) rs1553851462
NM_147127.5(EVC2):c.558G>A (p.Trp186Ter)
NM_147127.5(EVC2):c.636_637delinsT (p.Thr213fs)
NM_147127.5(EVC2):c.711_717del (p.Asp238fs)
NM_147127.5(EVC2):c.750_751delinsA (p.Gly251fs)
NM_147127.5(EVC2):c.769G>T (p.Glu257Ter) rs1553850677
NM_147127.5(EVC2):c.775_781del (p.Leu259fs)
NM_147127.5(EVC2):c.816+1G>T rs1355905411
NM_147127.5(EVC2):c.816+2T>A rs1294715119
NM_147127.5(EVC2):c.816+2T>C rs1294715119
NM_147127.5(EVC2):c.817-1G>T
NM_147127.5(EVC2):c.817-2A>G rs1553849894
NM_147127.5(EVC2):c.821_824del (p.Arg274fs) rs1368193719
NM_147127.5(EVC2):c.870+1G>A rs2151724043
NM_147127.5(EVC2):c.870+2T>C
NM_147127.5(EVC2):c.871-2_894del rs755789146
NM_147127.5(EVC2):c.916delinsGACGA (p.Phe306fs)
NM_147127.5(EVC2):c.942G>A (p.Trp314Ter) rs763363403
NM_147127.5(EVC2):c.961del (p.Val321fs)

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