ClinVar Miner

List of variants reported as uncertain significance by Center for Personalized Medicine, Children's Hospital Los Angeles

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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr) rs189186475 0.00227
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00189
NM_001807.6(CEL):c.1966G>C (p.Ala656Pro) rs587780309 0.00172
NM_000243.3(MEFV):c.986G>A (p.Arg329His) rs104895112 0.00133
NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp) rs142594314 0.00128
NM_001038.6(SCNN1A):c.1427G>A (p.Arg476Gln) rs72657556 0.00118
NM_000338.3(SLC12A1):c.2255C>T (p.Ala752Val) rs137893258 0.00103
NM_000379.4(XDH):c.3647C>A (p.Pro1216His) rs143981573 0.00078
NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His) rs370932895 0.00048
NM_000246.4(CIITA):c.3344G>A (p.Ser1115Asn) rs138790505 0.00029
NM_003737.4(DCHS1):c.1679C>T (p.Ser560Phe) rs143753116 0.00020
NM_001204.7(BMPR2):c.545G>A (p.Gly182Asp) rs137852754 0.00016
NM_003737.4(DCHS1):c.877G>A (p.Glu293Lys) rs140867718 0.00016
NM_000287.4(PEX6):c.2225T>C (p.Leu742Pro) rs267608235 0.00012
NM_001199397.3(NEK1):c.859C>G (p.Pro287Ala) rs35222922 0.00012
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser) rs745404679 0.00012
NM_012452.3(TNFRSF13B):c.58C>T (p.Arg20Cys) rs200013015 0.00012
NM_001927.4(DES):c.407T>A (p.Leu136His) rs397516695 0.00011
NM_001849.4(COL6A2):c.2008A>G (p.Thr670Ala) rs753298014 0.00008
NM_004667.6(HERC2):c.5045A>G (p.Asn1682Ser) rs140073033 0.00007
NM_002076.4(GNS):c.1594C>G (p.Pro532Ala) rs202228620 0.00005
NM_001379451.1(BCORL1):c.532A>G (p.Thr178Ala) rs778220343 0.00004
NM_000215.4(JAK3):c.2452G>A (p.Glu818Lys) rs374191135 0.00003
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) rs63750952 0.00003
NM_000335.5(SCN5A):c.718G>A (p.Val240Met) rs199473076 0.00003
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) rs563345694 0.00003
NM_001308093.3(GATA4):c.94G>C (p.Ala32Pro) rs773545065 0.00003
NM_001382391.1(CSPP1):c.3296A>G (p.Glu1099Gly) rs201629827 0.00003
NM_004369.4(COL6A3):c.8359G>A (p.Ala2787Thr) rs763395740 0.00003
NM_006757.4(TNNT3):c.667C>T (p.Arg223Cys) rs367658497 0.00003
NM_001130823.3(DNMT1):c.3362G>T (p.Ser1121Ile) rs1202584286 0.00002
NM_000388.4(CASR):c.1609-27C>T rs4678175 0.00001
NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys) rs193922829 0.00001
NM_001110556.2(FLNA):c.7463C>A (p.Thr2488Asn) rs909387820 0.00001
NM_001111.5(ADAR):c.1646C>A (p.Ala549Asp) rs1557882064 0.00001
NM_001134831.2(AHI1):c.2299G>T (p.Val767Leu) rs755688765 0.00001
NM_001184880.2(PCDH19):c.2359C>T (p.Arg787Cys) rs376390125 0.00001
NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr) rs1356639316 0.00001
NM_001286577.2(C2CD3):c.917T>C (p.Leu306Pro) rs762278054 0.00001
NM_001369.3(DNAH5):c.10021C>G (p.Leu3341Val) rs751746139 0.00001
NM_002472.3(MYH8):c.5743A>G (p.Ile1915Val) rs1216879928 0.00001
NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln) rs140079523 0.00001
NM_004366.6(CLCN2):c.775G>A (p.Val259Ile) rs757549500 0.00001
NM_006494.4(ERF):c.1636C>T (p.Arg546Ter) rs764412749 0.00001
NM_007117.5(TRH):c.25G>A (p.Ala9Thr) rs772388530 0.00001
NM_015311.3(OBSL1):c.3341G>A (p.Trp1114Ter) rs560246798 0.00001
NM_030973.4(MED25):c.1778_1779del (p.Gln593fs) rs763039409 0.00001
NM_182914.3(SYNE2):c.19624G>T (p.Gly6542Trp) rs746433383 0.00001
NM_206933.4(USH2A):c.5003G>T (p.Gly1668Val) rs1265349835 0.00001
NM_000202.8(IDS):c.248T>G (p.Val83Gly) rs1569560525
NM_000379.4(XDH):c.1172C>T (p.Pro391Leu) rs1558697792
NM_000393.5(COL5A2):c.1842G>A (p.Met614Ile) rs1559085751
NM_000540.3(RYR1):c.10097G>T (p.Arg3366Leu) rs137932199
NM_000540.3(RYR1):c.1312G>C (p.Glu438Gln) rs765668209
NM_000814.6(GABRB3):c.94G>A (p.Gly32Arg) rs71651682
NM_001089.3(ABCA3):c.3200G>A (p.Gly1067Glu) rs1567339065
NM_001111.5(ADAR):c.841A>G (p.Ser281Gly) rs1557887436
NM_001127.4(AP1B1):c.637G>A (p.Glu213Lys) rs1569159579
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del) rs775428832
NM_001242896.3(DEPDC5):c.2785G>A (p.Gly929Ser) rs1569084151
NM_001270974.2(HYDIN):c.6631G>A (p.Asp2211Asn) rs748644598
NM_001291303.3(FAT4):c.8588T>C (p.Phe2863Ser) rs1560614899
NM_003466.4(PAX8):c.1011del (p.Val339fs) rs1558700308
NM_003470.3(USP7):c.333C>G (p.His111Gln) rs769761004
NM_003470.3(USP7):c.383+1G>C rs1567227059
NM_005027.4(PIK3R2):c.2093A>C (p.His698Pro) rs1555815294
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup) rs398124211
NM_005654.6(NR2F1):c.265T>C (p.Cys89Arg) rs1561523716
NM_014491.4(FOXP2):c.1782_1783delinsTA (p.Leu594_Val595delinsPheIle) rs1563067518
NM_015311.3(OBSL1):c.2980C>T (p.Arg994Cys) rs749541061
NM_053025.4(MYLK):c.2149G>A (p.Asp717Asn) rs150936840

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