ClinVar Miner

List of variants reported as uncertain significance by Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_014797.3(ZBTB24):c.146G>A (p.Arg49Gln) rs147441359 0.00624
NM_002168.4(IDH2):c.1304C>T (p.Thr435Met) rs118053940 0.00372
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp) rs104895427 0.00051
NM_001218.5(CA12):c.908-1G>A rs148438059 0.00043
NM_002168.4(IDH2):c.673G>A (p.Asp225Asn) rs142816010 0.00035
NM_000077.5(CDKN2A):c.318G>A (p.Val106=) rs199888003 0.00026
NM_006892.4(DNMT3B):c.1211A>G (p.Tyr404Cys) rs143462810 0.00023
NM_014727.3(KMT2B):c.7060G>A (p.Glu2354Lys) rs190929421 0.00022
NM_001370466.1(NOD2):c.2251G>A (p.Glu751Lys) rs104895443 0.00020
NM_201384.3(PLEC):c.5390G>A (p.Arg1797His) rs782581787 0.00019
NM_001134363.3(RBM20):c.3478G>A (p.Gly1160Ser) rs374611807 0.00006
NM_206933.4(USH2A):c.7616C>T (p.Pro2539Leu) rs147333637 0.00006
NM_002230.4(JUP):c.1130G>A (p.Arg377His) rs794729044 0.00005
NM_002070.4(GNAI2):c.879G>A (p.Gly293=) rs143863348 0.00003
NM_144672.4(OTOA):c.3188C>G (p.Pro1063Arg) rs1377749598 0.00003
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp) rs554073390 0.00002
NM_000275.3(OCA2):c.1456G>T (p.Asp486Tyr) rs772324459 0.00002
NM_001145809.2(MYH14):c.2893G>A (p.Glu965Lys) rs773353115 0.00002
NM_005334.3(HCFC1):c.4086C>T (p.Thr1362=) rs1388599232 0.00002
NM_057176.3(BSND):c.35T>C (p.Ile12Thr) rs121908144 0.00002
NM_206933.4(USH2A):c.11464T>C (p.Ser3822Pro) rs201961789 0.00002
NM_003482.4(KMT2D):c.13715A>G (p.Asn4572Ser) rs777292389 0.00001
NM_003482.4(KMT2D):c.185C>T (p.Pro62Leu) rs371342351 0.00001
NM_006767.4(LZTR1):c.2471T>C (p.Leu824Pro) rs752239353 0.00001
NM_017780.4(CHD7):c.5131G>A (p.Asp1711Asn) rs748590759 0.00001
NM_020982.4(CLDN9):c.475G>A (p.Glu159Lys) rs1388025205 0.00001
NM_000077.5(CDKN2A):c.50C>G (p.Ala17Gly)
NM_000260.4(MYO7A):c.4313C>T (p.Ala1438Val) rs538178875
NM_000372.5(TYR):c.164G>C (p.Cys55Ser) rs28940879
NM_001146696.2(KDM4C):c.11A>G (p.Tyr4Cys)
NM_001218.5(CA12):c.863_864insACCT (p.Phe289fs) rs2039037448
NM_001379180.1(ESRRB):c.796G>C (p.Asp266His) rs1595163029
NM_003073.5(SMARCB1):c.158G>T (p.Arg53Leu) rs779769475
NM_003482.4(KMT2D):c.11568GCA[6] (p.Gln3863dup) rs748986705
NM_004606.5(TAF1):c.421C>G (p.Pro141Ala) rs1602451776
NM_005445.4(SMC3):c.371T>G (p.Leu124Arg) rs1590553017
NM_006767.4(LZTR1):c.1559C>T (p.Pro520Leu) rs1569157089
NM_015061.6(KDM4C):c.1112G>A (p.Arg371Gln)
NM_015061.6(KDM4C):c.2320G>A (p.Ala774Thr)
NM_016277.5(RAB23):c.416T>C (p.Leu139Pro) rs1593208594
NM_017757.3(ZNF407):c.4847G>T (p.Gly1616Val) rs865919005
NM_019055.6(ROBO4):c.1529A>T (p.Asp510Val) rs1565325937
NM_020923.3(ZDBF2):c.6248_6249dup (p.Asn2084fs) rs879255650
NM_022817.3(PER2):c.2963C>T (p.Pro988Leu) rs1559323041
NM_057176.3(BSND):c.52C>G (p.Leu18Val) rs754403589
NM_133433.4(NIPBL):c.3068A>G (p.Lys1023Arg) rs1580399961
NM_138691.3(TMC1):c.596A>T (p.Asn199Ile) rs756960425
NM_194248.3(OTOF):c.2962TTC[1] (p.Phe989del) rs1423777622
NM_201384.3(PLEC):c.2354C>G (p.Ala785Gly) rs781932151

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