ClinVar Miner

List of variants reported as uncertain significance by Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine

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ClinVar version:
Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497 0.05303
NM_206965.2(FTCD):c.959G>A (p.Arg320Gln) rs77740289 0.00030
NM_004100.5(EYA4):c.529G>A (p.Val177Ile) rs776409783 0.00004
NM_002839.4(PTPRD):c.5102A>G (p.Asn1701Ser) rs779868747 0.00002
NM_005732.4(RAD50):c.282A>G (p.Ile94Met) rs786202847 0.00002
NM_032444.4(SLX4):c.4604G>A (p.Gly1535Glu) rs1425908713 0.00001
NM_000213.5(ITGB4):c.2021G>A (p.Arg674Gln)
NM_000389.5(CDKN1A):c.146G>C (p.Trp49Ser) rs1260849045
NM_000389.5(CDKN1A):c.154G>C (p.Asp52His) rs1019789691
NM_000528.4(MAN2B1):c.928A>T (p.Asn310Tyr)
NM_000814.6(GABRB3):c.479C>A (p.Ala160Glu)
NM_000876.4(IGF2R):c.2566G>A (p.Gly856Ser)
NM_000901.5(NR3C2):c.685A>G (p.Ile229Val)
NM_000959.4(PTGFR):c.449A>T (p.Lys150Ile)
NM_001007237.3(IGSF3):c.2179G>A (p.Gly727Ser)
NM_001009993.4(FAM168B):c.481C>A (p.Leu161Met)
NM_001025389.2(AMPD3):c.2101G>A (p.Val701Met)
NM_001039.4(SCNN1G):c.1691G>A (p.Arg564His)
NM_001080477.4(TENM3):c.918C>A (p.Ser306Arg)
NM_001101391.3(LINGO3):c.396C>A (p.Asp132Glu)
NM_001137550.2(LRRFIP1):c.131G>A (p.Arg44His)
NM_001142616.3(EHBP1):c.1699A>T (p.Ser567Cys)
NM_001162383.2(ARHGEF2):c.2072G>T (p.Ser691Ile)
NM_001184970.3(PACSIN2):c.1361C>G (p.Thr454Ser)
NM_001291415.2(KDM6A):c.3208_3209del (p.Lys1070fs) rs2148120477
NM_001297436.2(HAS1):c.233G>T (p.Arg78Leu)
NM_001301782.2(LENG9):c.551C>A (p.Ala184Asp)
NM_001317162.2(PLAGL1):c.1321C>T (p.Pro441Ser)
NM_001350162.2(TEX15):c.8824A>T (p.Ile2942Phe)
NM_001365809.2(SYT7):c.193C>T (p.Arg65Cys)
NM_001367711.1(HRH2):c.248A>G (p.Lys83Arg)
NM_001370338.1(SLC7A2):c.1195+360C>T
NM_001376312.2(GTDC1):c.371T>G (p.Phe124Cys)
NM_001377960.1(RBM12B):c.486G>T (p.Leu162Phe)
NM_001846.4(COL4A2):c.1197G>C (p.Arg399Ser)
NM_002114.4(HIVEP1):c.6364A>G (p.Asn2122Asp)
NM_002209.3(ITGAL):c.101G>A (p.Arg34Gln)
NM_002241.5(KCNJ10):c.361T>G (p.Phe121Val)
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile) rs111033566
NM_002896.4(RBM4):c.899C>T (p.Ser300Phe)
NM_003382.5(VIPR2):c.51+37G>A
NM_003737.4(DCHS1):c.8890C>T (p.Arg2964Cys)
NM_004192.4(ASMTL):c.599C>T (p.Pro200Leu)
NM_004225.3(MFHAS1):c.818A>G (p.Gln273Arg)
NM_004259.7(RECQL5):c.1513A>C (p.Asn505His)
NM_004445.6(EPHB6):c.197G>C (p.Arg66Pro)
NM_004612.4(TGFBR1):c.98-866A>G
NM_004714.3(DYRK1B):c.586A>C (p.Asn196His)
NM_004851.3(NAPSA):c.609G>T (p.Met203Ile)
NM_004938.4(DAPK1):c.415G>C (p.Asp139His)
NM_005015.5(OXA1L):c.961T>G (p.Ser321Ala)
NM_005245.4(FAT1):c.8322T>A (p.Tyr2774Ter) rs2126493012
NM_005269.3(GLI1):c.3301T>C (p.Phe1101Leu) rs2139870782
NM_005343.4(HRAS):c.37_38inv (p.Gly13Pro)
NM_006311.4(NCOR1):c.4202A>G (p.His1401Arg) rs1381184599
NM_006321.4(ARIH2):c.847G>A (p.Asp283Asn)
NM_006873.4(STON1):c.2072G>T (p.Gly691Val)
NM_007039.4(PTPN21):c.339G>C (p.Gln113His)
NM_012254.3(SLC27A5):c.1076C>A (p.Ala359Asp)
NM_014045.5(LRP10):c.1798C>T (p.Arg600Cys)
NM_014363.6(SACS):c.734A>T (p.Asp245Val)
NM_014714.4(IFT140):c.1141A>G (p.Ile381Val)
NM_015059.3(TLN2):c.5728C>A (p.Pro1910Thr)
NM_015439.3(CCDC28A):c.61G>A (p.Val21Ile)
NM_015670.6(SENP3):c.1544G>T (p.Trp515Leu)
NM_017636.4(TRPM4):c.2543G>T (p.Gly848Val)
NM_018052.5(VAC14):c.934G>C (p.Asp312His)
NM_018071.5(ARHGEF40):c.1760_1771del (p.Gly587_Leu591delinsVal)
NM_018319.4(TDP1):c.1695G>A (p.Glu565=)
NM_019589.3(YLPM1):c.2537A>G (p.Gln846Arg)
NM_020180.4(CELF4):c.658-152G>A
NM_020698.4(TMCC3):c.1149C>A (p.Cys383Ter)
NM_021625.5(TRPV4):c.1186G>T (p.Asp396Tyr)
NM_021733.2(TSKS):c.1731C>A (p.Ser577Arg)
NM_021801.5(MMP26):c.395G>A (p.Ser132Asn)
NM_021814.5(ELOVL5):c.58+1262G>A
NM_022111.4(CLSPN):c.3585A>T (p.Glu1195Asp)
NM_022842.5(CDCP1):c.2170A>T (p.Lys724Ter)
NM_023015.5(INTS3):c.2779T>G (p.Leu927Val)
NM_023110.3(FGFR1):c.1179_2378dup (p.Val429_Asn763delinsGluSerArgTrpGlyIleCysThrLeuSerThrThrSerLeuSerGlyProLeuMetProCysProLeuHisCysProTer)
NM_024562.2(TANGO6):c.659T>C (p.Phe220Ser)
NM_024706.5(ZNF668):c.1549G>C (p.Val517Leu)
NM_024816.3(RABEP2):c.175G>A (p.Ala59Thr)
NM_025074.7(FRAS1):c.2143C>T (p.His715Tyr)
NM_025268.4(TMEM121):c.878_880del (p.Val293_Pro294delinsAla)
NM_031308.4(EPPK1):c.1912G>A (p.Gly638Ser)
NM_032415.7(CARD11):c.3064A>G (p.Thr1022Ala) rs2115026653
NM_032951.3(MLXIPL):c.820G>A (p.Ala274Thr)
NM_033396.3(TNKS1BP1):c.2386A>G (p.Ile796Val)
NM_033643.3(RPL36):c.34A>G (p.Asn12Asp)
NM_052820.4(CORO2A):c.398G>A (p.Arg133His)
NM_053277.3(CLIC6):c.787G>A (p.Gly263Arg)
NM_133445.3(GRIN3A):c.439T>A (p.Ser147Thr)
NM_138554.5(TLR4):c.526_544del (p.Asn176fs) rs749154041
NM_138777.5(MRRF):c.79T>G (p.Ser27Ala)
NM_148674.5(SMC1B):c.3475G>C (p.Asp1159His)
NM_152268.4(PARS2):c.559A>T (p.Lys187Ter)
NM_152562.4(CDCA2):c.696C>G (p.Asp232Glu)
NM_176795.5(HRAS):c.451-12_451del rs2133985401
NM_198253.3(TERT):c.-124C>T rs1242535815
NM_198692.3(KRTAP10-11):c.112G>A (p.Ala38Thr)
NM_203500.2(KEAP1):c.814C>T (p.Arg272Cys) rs2144603213

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