ClinVar Miner

List of variants reported as uncertain significance by Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo

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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_001040616.3(LINS1):c.842C>G (p.Ser281Cys) rs779725468 0.00003
NM_004463.3(FGD1):c.68C>G (p.Pro23Arg) rs1358236718 0.00001
NC_000004.12:g.(?_186013132)_(186215992_?)dup
NC_000007.13:g.(?_57260919)_(57882330_?)dup
NC_000011.10:g.(?_48359351)_(48946475_?)del
NC_000015.9:g.(?_22410242)_(23222284_?)del
NC_000015.9:g.(?_31956036)_(32511581_?)dup
NC_000015.9:g.(?_32024192)_(32509926_?)dup
NC_000017.11:g.(?_27647231)_(27748498_?)del
NM_000097.7(CPOX):c.278T>C (p.Phe93Ser)
NM_000215.4(JAK3):c.1459G>A (p.Val487Met) rs2147689016
NM_000254.3(MTR):c.2222A>G (p.Lys741Arg)
NM_000755.5(CRAT):c.1151A>G (p.Asn384Ser)
NM_000876.4(IGF2R):c.2015G>C (p.Cys672Ser)
NM_001009999.3(KDM1A):c.812G>A (p.Arg271Gln)
NM_001011709.3(PNLIPRP3):c.245A>G (p.Tyr82Cys)
NM_001039614.3(INSYN1):c.548G>A (p.Arg183Gln)
NM_001040167.2(LFNG):c.460G>A (p.Glu154Lys)
NM_001093730.1(DYTN):c.1408C>A (p.Gln470Lys)
NM_001098204.2(HNRNPF):c.781G>A (p.Gly261Arg)
NM_001142644.2(SPHKAP):c.4889G>A (p.Trp1630Ter)
NM_001145290.2(SLC37A2):c.374G>C (p.Ser125Thr)
NM_001177693.2(ARHGEF28):c.1220G>A (p.Cys407Tyr)
NM_001190844.2(TMEM221):c.649C>T (p.Arg217Trp)
NM_001277115.2(DNAH11):c.466C>T (p.Leu156Phe)
NM_001290223.2(DOCK1):c.2249C>T (p.Pro750Leu)
NM_001320047.2(FIRRM):c.386A>G (p.Tyr129Cys)
NM_001350709.2(DGKB):c.947A>T (p.Asn316Ile)
NM_001366145.2(TRPM3):c.3541G>A (p.Glu1181Lys)
NM_001370785.2(LRRC7):c.175G>C (p.Glu59Gln)
NM_001395462.2(LUZP1):c.1202G>A (p.Arg401Gln)
NM_001405607.1(PBRM1):c.3999G>T (p.Glu1333Asp)
NM_001568.3(EIF3E):c.25C>T (p.Arg9Cys)
NM_001794.5(CDH4):c.2346G>C (p.Lys782Asn)
NM_002216.3(ITIH2):c.849G>T (p.Glu283Asp)
NM_002610.5(PDK1):c.406T>C (p.Tyr136His)
NM_003679.5(KMO):c.583_601del (p.Met195fs)
NM_005110.4(GFPT2):c.1152+1G>A
NM_005540.3(INPP5B):c.29C>T (p.Thr10Met)
NM_005647.4(TBL1X):c.373G>A (p.Asp125Asn)
NM_006226.4(PLCL1):c.3128A>G (p.Asn1043Ser)
NM_006332.5(IFI30):c.550G>A (p.Gly184Ser)
NM_006526.3(ZNF217):c.439A>G (p.Met147Val)
NM_012161.4(FBXL5):c.1345G>A (p.Asp449Asn)
NM_013356.3(SLC16A8):c.396C>G (p.Ile132Met)
NM_014706.4(SART3):c.625G>A (p.Val209Met)
NM_014717.3(ZNF536):c.1571G>A (p.Trp524Ter)
NM_014838.3(ZBED4):c.1006C>G (p.Arg336Gly)
NM_015848.4(KRT76):c.1096C>T (p.Gln366Ter)
NM_017675.6(CDHR2):c.92C>T (p.Thr31Met)
NM_018031.6(WDR6):c.3097C>T (p.Arg1033Cys)
NM_018056.4(TMEM39B):c.734C>T (p.Thr245Met)
NM_018124.4(RFWD3):c.475C>T (p.Arg159Trp)
NM_018133.4(MSL2):c.1625G>T (p.Ser542Ile)
NM_018133.4(MSL2):c.1642G>C (p.Val548Leu)
NM_020178.5(CA10):c.706G>A (p.Asp236Asn)
NM_020851.3(ISLR2):c.1580T>A (p.Leu527Gln)
NM_024513.4(FYCO1):c.1493A>C (p.Gln498Pro)
NM_025129.5(FUZ):c.961C>G (p.Pro321Ala)
NM_031938.7(BCO2):c.748_755del (p.Lys250fs)
NM_033161.4(SURF4):c.433G>A (p.Val145Ile)
NM_078471.4(MYO18A):c.3325C>T (p.Arg1109Cys)
NM_145648.4(SLC15A4):c.224G>A (p.Ser75Asn)
NM_147188.3(FBXO22):c.737T>A (p.Met246Lys)
NM_178425.4(HDAC9):c.2252C>G (p.Ser751Cys)
NM_183337.3(RGS11):c.1048C>G (p.Leu350Val)
Single allele

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