ClinVar Miner

List of variants reported as uncertain significance by Institute of Human Genetics, Polish Academy of Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 102
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_152403.4(EGFLAM):c.1360G>A (p.Gly454Arg) rs150754556 0.00220
NM_002253.4(KDR):c.2312C>T (p.Thr771Met) rs149745504 0.00198
NM_005606.7(LGMN):c.1211A>G (p.His404Arg) rs145149674 0.00155
NM_004213.5(SLC28A1):c.1013T>C (p.Val338Ala) rs139484056 0.00089
NM_006891.4(CRYGD):c.181G>T (p.Gly61Cys) rs150857132 0.00089
NM_001109977.3(FHIP1A):c.2417A>G (p.Asp806Gly) rs766363756 0.00086
NM_006252.4(PRKAA2):c.352C>T (p.Arg118Trp) rs145987132 0.00083
NM_005609.4(PYGM):c.160T>G (p.Phe54Val) rs148839812 0.00046
NM_003060.4(SLC22A5):c.1451G>T (p.Gly484Val) rs28383480 0.00039
NM_001037132.4(NRCAM):c.2411C>G (p.Ser804Cys) rs201534122 0.00038
NM_001144774.3(ELAVL4):c.148G>A (p.Val50Ile) rs116391279 0.00034
NM_145043.4(NEIL2):c.77G>C (p.Gly26Ala) rs150931138 0.00032
NM_021948.5(BCAN):c.2518C>T (p.Leu840Phe) rs200282065 0.00030
NM_000494.4(COL17A1):c.3205C>T (p.Arg1069Trp) rs201280800 0.00029
NM_014855.3(AP5Z1):c.671C>T (p.Thr224Met) rs201862383 0.00029
NM_005560.6(LAMA5):c.6221C>T (p.Pro2074Leu) rs772704319 0.00026
NM_139281.3(WDR36):c.111G>T (p.Lys37Asn) rs200337257 0.00023
NM_014438.5(IL36B):c.391+2T>C rs199600636 0.00021
NM_018061.4(PRPF38B):c.1322G>A (p.Ser441Asn) rs761679182 0.00019
NM_024419.5(PGS1):c.1513G>A (p.Val505Met) rs372229822 0.00018
NM_002314.4(LIMK1):c.1827G>C (p.Met609Ile) rs370934853 0.00016
NM_152246.3(CPT1B):c.754G>A (p.Val252Met) rs141837905 0.00015
NM_002182.4(IL1RAP):c.1607G>C (p.Gly536Ala) rs145613403 0.00014
NM_005519.2(HMX2):c.269-1G>A rs202148161 0.00014
NM_001330988.2(SLC25A25):c.481C>T (p.Arg161Ter) rs991058347 0.00013
NM_020526.5(EPHA8):c.2567G>A (p.Arg856His) rs149877319 0.00011
NM_022493.3(CIAO3):c.1112G>A (p.Arg371His) rs750419777 0.00011
NM_005310.5(GRB7):c.728G>A (p.Arg243Gln) rs777523440 0.00010
NM_020319.3(ANKMY2):c.203A>T (p.His68Leu) rs944599231 0.00007
NM_001129.5(AEBP1):c.592G>A (p.Gly198Arg) rs777560888 0.00006
NM_005502.4(ABCA1):c.5773C>T (p.Arg1925Trp) rs568280586 0.00006
NM_001003841.3(SLC6A19):c.1701+1G>A rs756010661 0.00005
NM_001290264.2(SLC35E2B):c.938C>T (p.Thr313Met) rs778277949 0.00004
NM_001395010.1(DAB2IP):c.2759C>T (p.Pro920Leu) rs765361316 0.00003
NM_017865.4(ZNF692):c.97G>C (p.Gly33Arg) rs144108516 0.00003
NM_021978.4(ST14):c.557G>A (p.Arg186His) rs532856272 0.00003
NM_032020.5(FUCA2):c.208G>A (p.Gly70Ser) rs777309409 0.00003
NM_001130083.2(ABLIM2):c.1784G>A (p.Arg595His) rs750016618 0.00002
NM_001466.4(FZD2):c.1238G>A (p.Arg413Gln) rs758351214 0.00002
NM_015937.6(PIGT):c.1717C>T (p.Arg573Ter) rs774183841 0.00002
NM_000283.4(PDE6B):c.482G>A (p.Ser161Asn) rs574098823 0.00001
NM_001010987.2(IFIT1B):c.1153G>A (p.Gly385Ser) rs778626965 0.00001
NM_001025248.2(DUT):c.298C>T (p.Pro100Ser) rs28381104 0.00001
NM_001999.4(FBN2):c.842A>G (p.Gln281Arg) rs773505261 0.00001
NM_002851.3(PTPRZ1):c.6169A>G (p.Ile2057Val) rs1426356380 0.00001
NM_003998.4(NFKB1):c.532T>A (p.Tyr178Asn) rs1425802039 0.00001
NM_014717.3(ZNF536):c.1312T>C (p.Phe438Leu) rs1225011334 0.00001
NM_016246.3(HSD17B14):c.700G>A (p.Glu234Lys) rs1400589983 0.00001
NM_020336.4(RALGAPB):c.1258T>C (p.Ser420Pro) rs1225426795 0.00001
NM_024989.4(PGAP1):c.1553-4A>G rs747122565 0.00001
NM_058179.4(PSAT1):c.328A>C (p.Lys110Gln) rs753331548 0.00001
NM_138959.3(VANGL1):c.41C>T (p.Ser14Leu) rs1202230056 0.00001
NM_198993.5(STAC2):c.208C>T (p.Pro70Ser) rs201455475 0.00001
NC_000004.12:g.69391612A>G
NC_000007.14:g.129126742_129126748del
NC_000007.14:g.142581165C>G
NC_000014.9:g.22007907C>T
NC_000014.9:g.22007908A>C
NM_000968.4(RPL4):c.428G>A (p.Arg143His) rs1567034808
NM_001042492.3(NF1):c.5257G>C (p.Val1753Leu) rs148540952
NM_001282359.2(ZNF107):c.2214_2215del (p.Cys738fs) rs1584494687
NM_001282426.2(PIK3CG):c.711del (p.Asp238fs) rs767360862
NM_001303264.2(TSC22D2):c.1702G>T (p.Ala568Ser)
NM_001304359.2(MUC5AC):c.10301C>T (p.Pro3434Leu)
NM_001304359.2(MUC5AC):c.3601C>T (p.Arg1201Trp)
NM_001304359.2(MUC5AC):c.5459G>A (p.Arg1820Gln)
NM_001330564.2(ZC3H13):c.1049G>T (p.Arg350Leu) rs11537603
NM_001351365.2(NBPF19):c.11302C>G (p.Leu3768Val)
NM_001355281.2(NANOGP8):c.190G>T (p.Asp64Tyr)
NM_001395430.1(PAK6):c.1855C>A (p.Pro619Thr) rs1407997977
NM_001413067.1(ATAT1):c.566T>G (p.Phe189Cys) rs1561922033
NM_002018.4(FLII):c.3772T>C (p.Phe1258Leu) rs1567701499
NM_002336.3(LRP6):c.4822C>T (p.Pro1608Ser) rs1565521308
NM_004289.7(NFE2L3):c.932A>G (p.Gln311Arg)
NM_004297.4(GNA14):c.678del (p.Ala227fs) rs746420384
NM_005430.4(WNT1):c.1063G>T (p.Val355Phe) rs387907358
NM_005605.5(PPP3CC):c.1199T>C (p.Met400Thr) rs1563790727
NM_005666.4(CFHR2):c.430+1G>A rs111370744
NM_005833.4(RABEPK):c.256C>T (p.Arg86Trp) rs139098107
NM_005975.4(PTK6):c.1066C>A (p.Pro356Thr) rs777792665
NM_006379.5(SEMA3C):c.908A>G (p.Asp303Gly) rs906961857
NM_012190.4(ALDH1L1):c.520A>G (p.Lys174Glu) rs1559961172
NM_013289.4(KIR3DL1):c.337G>A (p.Val113Met)
NM_013289.4(KIR3DL1):c.475G>T (p.Gly159Trp)
NM_014512.1(KIR2DS1):c.272A= (p.Lys91=)
NM_015719.4(COL5A3):c.4204A>C (p.Lys1402Gln) rs777027146
NM_016631.4(PAXBP1):c.485T>C (p.Leu162Ser) rs781563968
NM_017908.4(ZNF446):c.221T>G (p.Phe74Cys) rs1568616613
NM_018557.3(LRP1B):c.7035G>A (p.Met2345Ile) rs1558994892
NM_018968.4(SNTG2):c.883G>C (p.Asp295His) rs774628451
NM_020808.5(SIPA1L2):c.205C>T (p.Pro69Ser) rs754566388
NM_021960.5(MCL1):c.1031G>T (p.Gly344Val) rs1186393634
NM_022662.4(ANAPC1):c.794T>G (p.Val265Gly) rs1277713553
NM_031961.3(KRTAP9-2):c.25T>A (p.Cys9Ser) rs758499842
NM_032727.4(INA):c.799G>A (p.Glu267Lys) rs1564713713
NM_133493.5(CD109):c.3346G>C (p.Glu1116Gln) rs1562082456
NM_145314.3(UCMA):c.413C>G (p.Thr138Ser)
NM_173165.3(NFATC3):c.1922G>A (p.Arg641Gln) rs772345934
NM_174936.4(PCSK9):c.467G>A (p.Trp156Ter) rs1557500768
NM_174936.4(PCSK9):c.468G>A (p.Trp156Ter) rs1557500771
NM_198391.3(FLRT3):c.1642G>C (p.Val548Leu) rs1345083050
NT_113889.1:g.54175G>A

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.