ClinVar Miner

List of variants reported as uncertain significance by Clinical Genetics, Erasmus University Medical Center

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ClinVar version:
Total variants: 143
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HGVS dbSNP gnomAD frequency
NM_014000.3(VCL):c.2388G>A (p.Pro796=) rs767809 0.42862
NM_001010848.4(NRG3):c.1986C>T (p.Ser662=) rs2295933 0.36600
NM_001318241.2(TBATA):c.666T>C (p.Ala222=) rs2254433 0.29892
NM_001352890.3(DENND3):c.1350C>T (p.Phe450=) rs2289001 0.26784
NM_001010848.4(NRG3):c.823+1856C>G rs1884282 0.13286
NM_001010848.4(NRG3):c.1770A>G (p.Pro590=) rs17101196 0.09216
NM_016320.5(NUP98):c.2637G>A (p.Pro879=) rs35803045 0.05148
NM_015634.4(KIFBP):c.68A>G (p.Glu23Gly) rs148768851 0.00669
NM_003238.6(TGFB2):c.272G>A (p.Arg91His) rs10482721 0.00297
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) rs35586704 0.00228
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser) rs140666848 0.00218
NM_003872.3(NRP2):c.1000C>T (p.Arg334Cys) rs114144673 0.00186
NM_001377.3(DYNC2H1):c.12366+8A>G rs200404815 0.00156
NM_018900.4(PCDHA1):c.2420G>A (p.Arg807His) rs150254638 0.00140
NM_006320.6(PGRMC2):c.113G>A (p.Gly38Glu) rs41298555 0.00046
NM_001366661.1(CLUH):c.3664G>C (p.Asp1222His) rs201361018 0.00031
NM_145117.5(NAV2):c.2500C>T (p.Arg834Trp) rs144875196 0.00018
NM_001145059.2(IQCF5):c.283C>T (p.Arg95Cys) rs772101978 0.00011
NM_001556.3(IKBKB):c.815G>A (p.Arg272Gln) rs200841053 0.00006
NM_018026.4(PACS1):c.1069G>A (p.Glu357Lys) rs750459659 0.00004
NM_004557.4(NOTCH4):c.1118G>A (p.Arg373Gln) rs745883985 0.00003
NM_006122.4(MAN2A2):c.478G>A (p.Asp160Asn) rs374688808 0.00003
NM_015634.4(KIFBP):c.1279A>G (p.Ser427Gly) rs370902866 0.00003
NM_006187.4(OAS3):c.1390C>T (p.Arg464Trp) rs750291946 0.00002
NM_001286581.2(PHRF1):c.1075G>A (p.Ala359Thr) rs551874512 0.00001
NM_003057.3(SLC22A1):c.523C>T (p.Arg175Cys) rs768905186 0.00001
NM_007241.4(SNF8):c.629G>A (p.Arg210Gln) rs775611332 0.00001
GRCh37/hg19 10p12.33(chr10:18550958-18583866)
GRCh37/hg19 10p12.33(chr10:18550958-18592873)
GRCh37/hg19 13q12.11(chr13:22688792-22981935)
GRCh37/hg19 15q21.3(chr15:57711740-57749246)
GRCh37/hg19 16p13.11(chr16:15034035-15998820)
GRCh37/hg19 16p13.11(chr16:15539023-16291541)
GRCh37/hg19 16q12.1-12.2(chr16:52464934-52676323)
GRCh37/hg19 1q32.3(chr1:213092201-213176992)
GRCh37/hg19 1q43(chr1:241155581-241186738)
GRCh37/hg19 22q12.1(chr22:26838242-26881031)
GRCh37/hg19 22q13.33(chr22:50645586-50949482)
GRCh37/hg19 2q35(chr2:218647714-219053933)
GRCh37/hg19 3p14.1(chr3:64992802-65051455)
GRCh37/hg19 3p26.1(chr3:8520585-8552850)
GRCh37/hg19 3q22.1(chr3:133034333-133089757)
GRCh37/hg19 5q35.1(chr5:171395554-171508587)
NC_000001.10:g.3776519_4049451dup
NC_000001.11:g.152313740_152351227dup
NC_000001.11:g.185140652_185163497dup
NC_000001.11:g.25389184_25418273dup
NC_000002.11:g.102658576_102847088dup
NC_000002.11:g.10664398_10914786dup
NC_000002.11:g.177128475_177259979dup
NC_000002.11:g.206875802_207000559del
NC_000002.12:g.215349854_215435010del
NC_000003.11:g.108481092_108926543del
NC_000003.12:g.138009002_138059513del
NC_000003.12:g.146056770_146083362dup
NC_000003.12:g.57429239_57506648del
NC_000004.12:g.158674880_158700204del
NC_000006.12:g.22008001_22092880del
NC_000007.13:g.151797921_152258693dup
NC_000007.13:g.3627221_3759274del
NC_000007.13:g.4736454_4860123dup
NC_000007.13:g.4929022_5218030dup
NC_000007.13:g.5239584_5401976dup
NC_000007.13:g.95845896_96004178del
NC_000008.10:g.95186036_95301703dup
NC_000012.11:g.128208742_128917555dup
NC_000012.11:g.80598919_80836812del
NC_000012.11:g.94767704_94880489del
NC_000012.12:g.9092896_9155947dup
NC_000015.10:g.80234873_80310800dup
NC_000015.9:g.62409198_62521004dup
NC_000018.10:g.48229615_48261302dup
NC_000018.10:g.6335543_6430945dup
NC_000018.10:g.6454094_6548625dup
NC_000018.9:g.65699090_66534856dup
NC_000022.10:g.21802791_22555544dup
NC_000023.11:g.3266860_3322912dup
NC_000023.11:g.95154038_95191395del
NG_031835.1(PPID):g.103322_138659del
NM_000090.4(COL3A1):c.80-489_3525+120del
NM_000130.5(F5):c.1867A>G (p.Thr623Ala) rs1571577319
NM_000208.4(INSR):c.3364G>A (p.Ala1122Thr) rs1250061465
NM_000256.3(MYBPC3):c.482C>A (p.Pro161Gln) rs1565631094
NM_000492.4(CFTR):c.2491-1136_2619+2230del
NM_000492.4(CFTR):c.3874-5122_3963+733del
NM_000514.4(GDNF):c.625_630del (p.Gly209_Cys210del) rs1554020079
NM_000719.7(CACNA1C):c.5761C>T (p.Pro1921Ser) rs1603462691
NM_001003891.3(MED15):c.943C>A (p.Pro315Thr) rs1453731006
NM_001007237.3(IGSF3):c.1841G>T (p.Arg614Leu) rs190300523
NM_001025290.3(DPPA5):c.214G>A (p.Gly72Ser) rs1582614694
NM_001034853.2(RPGR):c.780G>T (p.Glu260Asp) rs1328506002
NM_001083962.2(TCF4):c.337G>C (p.Gly113Arg) rs1556050492
NM_001104631.2(PDE4D):c.1339T>C (p.Tyr447His) rs1580132131
NM_001114120.3(DEPDC1):c.1459T>A (p.Ser487Thr) rs1571197028
NM_001122659.3(EDNRB):c.*63G>A rs986500037
NM_001130021.3(ATP6V0A1):c.1340G>A (p.Arg447Gln) rs1204448380
NM_001256.6(CDC27):c.4A>G (p.Thr2Ala) rs62077280
NM_001258282.3(LINGO2):c.-228+12976_-227-20514del
NM_001288718.2(STAT5A):c.1279G>A (p.Ala427Thr) rs1598364148
NM_001293626.2(MGAM2):c.3015G>T (p.Met1005Ile) rs73547308
NM_001347217.2(WDR13):c.911C>T (p.Thr304Ile) rs1602147382
NM_001352890.3(DENND3):c.3330G>A (p.Pro1110=) rs1045303
NM_001374736.1(DST):c.11993C>G (p.Ser3998Ter) rs1586153937
NM_001382508.1(DROSHA):c.323G>A (p.Arg108Lys) rs1580396270
NM_001384140.1(PCDH15):c.139G>A (p.Asp47Asn) rs1589906631
NM_001387011.1(AMBRA1):c.431C>T (p.Ala144Val) rs1565279367
NM_001389.5(DSCAM):c.4979T>A (p.Ile1660Asn) rs1601280227
NM_001395413.1(POR):c.1222T>C (p.Ser408Pro) rs781842238
NM_001395460.1(TENM2):c.4165C>A (p.Leu1389Met) rs1581659572
NM_001927.4(DES):c.37_578+508del
NM_002211.4(ITGB1):c.2252G>A (p.Trp751Ter) rs1593853217
NM_002235.5(KCNA6):c.233A>G (p.Asp78Gly) rs1591588696
NM_002249.6(KCNN3):c.200AGC[16] (p.Gln79_Gln80dup) rs3831942
NM_002615.7(SERPINF1):c.643+8C>T rs149399910
NM_003296.4(CRISP2):c.515+968_604+1414del
NM_005264.8(GFRA1):c.1A>T (p.Met1Leu) rs1589930581
NM_006031.6(PCNT):c.4585-26_7180-1125del
NM_006622.4(PLK2):c.1049C>T (p.Thr350Ile) rs1579964675
NM_006747.4(SIPA1):c.367A>G (p.Ser123Gly) rs1590917647
NM_006761.5(YWHAE):c.116T>C (p.Val39Ala) rs1598243579
NM_006761.5(YWHAE):c.142G>A (p.Ala48Thr) rs1598243550
NM_012216.4(MID2):c.1757T>C (p.Ile586Thr) rs1602513371
NM_014630.3(ZNF592):c.3433C>A (p.Gln1145Lys) rs1596137692
NM_014795.4(ZEB2):c.3552G>A (p.Glu1184=) rs1573707562
NM_015634.3:c.905_1020del
NM_015634.4(KIFBP):c.1516dup (p.Ile506fs) rs781469363
NM_015634.4(KIFBP):c.1694_1695del (p.Glu565fs) rs1216570912
NM_015634.4(KIFBP):c.565C>T (p.Pro189Ser) rs1589296239
NM_017617.5(NOTCH1):c.6032T>C (p.Leu2011Pro) rs1589054568
NM_017633.3(TENT5A):c.26C>G (p.Ala9Gly) rs1581992148
NM_017633.3(TENT5A):c.64C>G (p.Pro22Ala) rs1581992092
NM_018475.5(TMEM165):c.782C>A (p.Ala261Glu) rs1578240731
NM_020066.5(FMN2):c.162del (p.Gly55fs) rs1572736047
NM_020485.5(RHCE):c.148+2367_676dup
NM_023934.4(FUNDC2):c.361-2517_0del
NM_031200.3(CCR9):c.3G>T (p.Met1Ile) rs1553617019
NM_032177.4(PHAX):c.379C>T (p.Gln127Ter) rs1581415304
NM_152296.5(ATP1A3):c.1978C>A (p.Leu660Ile) rs1599713761
NM_153006.3(NAGS):c.1378C>G (p.Leu460Val) rs1272126077
NM_198253.3(TERT):c.1185G>T (p.Glu395Asp) rs1579596881
NM_198390.3(CMIP):c.1478C>G (p.Thr493Ser) rs1597258512
NM_198904.4(GABRG2):c.155A>G (p.Asn52Ser) rs1581342223
NM_207322.3(C2CD4A):c.284A>C (p.His95Pro) rs1596557030

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