ClinVar Miner

List of variants reported by Laboratory of Prof. Karen Avraham, Tel Aviv University

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ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_016366.3(CABP2):c.637+1G>T rs149712664 0.00102
NM_001354587.1(ANKRD36):c.2479-1G>A rs200852589 0.00076
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp) rs370359511 0.00024
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_016239.4(MYO15A):c.8090T>C (p.Val2697Ala) rs200451098 0.00013
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) rs111033260 0.00012
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His) rs184435771 0.00011
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=) rs372466080 0.00011
NM_005422.4(TECTA):c.248C>T (p.Thr83Met) rs145898158 0.00009
NM_016239.4(MYO15A):c.8050T>C (p.Tyr2684His) rs376351191 0.00007
NM_001384140.1(PCDH15):c.131T>C (p.Val44Ala) rs750302536 0.00006
NM_001039213.4(CEACAM16):c.703C>T (p.Arg235Cys) rs746164064 0.00004
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr) rs201067821 0.00002
NM_022124.6(CDH23):c.7903G>T (p.Val2635Phe) rs763721044 0.00002
NM_138691.3(TMC1):c.1939T>C (p.Ser647Pro) rs138527651 0.00002
NM_001039876.3(SYNE4):c.228_229del (p.Trp77fs) rs587777072 0.00001
NM_001354587.1(ANKRD36):c.2589T>G (p.Ser863Arg) rs534494159 0.00001
NM_004999.4(MYO6):c.238C>T (p.Arg80Ter) rs727504567 0.00001
NM_005422.4(TECTA):c.2887G>A (p.Ala963Thr) rs753896285 0.00001
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met) rs140236996 0.00001
NM_006005.3(WFS1):c.1088A>C (p.Lys363Thr) rs1386447227 0.00001
NM_016239.4(MYO15A):c.8340G>A (p.Thr2780=) rs878853228 0.00001
NM_016366.3(CABP2):c.232G>A (p.Glu78Lys) rs1391730624 0.00001
15q15.3 deletion
9q21.11 duplication
NC_000009.11:g.71705804_71974823invdup
NC_000009.12:g.69090066_69225446dup
NC_000017.1:g.18054799_18058246delinsCTCCCCGGAACGGCTGCTGGTAC
NM_000260.3(MYO7A):c.[1969C>T];[29T>C]
NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp) rs878853236
NM_000260.4(MYO7A):c.620A>G (p.Asn207Ser) rs878853235
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) rs797044512
NM_000307.5(POU3F4):c.235C>T (p.Gln79Ter) rs878853242
NM_000307.5(POU3F4):c.853_854del (p.Ile285fs) rs397516336
NM_000441.1(SLC26A4):c.[349C>T];[578C>T]
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.1458dup (p.Ile487fs) rs1584331188
NM_000836.4(GRIN2D):c.1999G>A (p.Val667Ile) rs886040861
NM_001001331.4(ATP2B2):c.1033C>T (p.Gln345Ter) rs2061464108
NM_001002295.2(GATA3):c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC (p.Glu228fs) rs878853222
NM_001002295.2(GATA3):c.832G>A (p.Asp278Asn) rs1588383622
NM_001199107.2(TBC1D24):c.194G>T (p.Arg65Leu) rs878853232
NM_001354604.2(MITF):c.1000dup (p.Leu334fs) rs1576047519
NM_001354604.2(MITF):c.1208del (p.Gly403fs) rs878853234
NM_001354604.2(MITF):c.953T>C (p.Leu318Pro) rs1553704097
NM_001384474.1(LOXHD1):c.46del (p.Leu16fs) rs1599083635
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter) rs75949023
NM_001384474.1(LOXHD1):c.6080dup (p.Gly2028fs) rs878853231
NM_004004.6(GJB2):c.400T>C (p.Trp134Arg) rs878853241
NM_004086.3(COCH):c.1115T>C (p.Ile372Thr) rs1594385065
NM_004086.3(COCH):c.1159C>T (p.Leu387Phe) rs878853226
NM_004100.5(EYA4):c.1720_1722delTACinsAAA rs1800334076
NM_004100.5(EYA4):c.441del (p.Tyr148fs) rs878853223
NM_004999.4(MYO6):c.1452dup (p.Asn485Ter) rs1775958137
NM_004999.4(MYO6):c.1473_1473+2delinsC rs878853225
NM_004999.4(MYO6):c.3765del (p.Cys1256fs) rs1582024232
NM_005172.2(ATOH1):c.1030del (p.His344fs) rs1578814396
NM_005422.4(TECTA):c.6017A>G (p.Asp2006Gly) rs878853224
NM_005982.4(SIX1):c.396G>C (p.Lys132Asn) rs1303947821
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) rs74315205
NM_006012.4(CLPP):c.173T>G (p.Leu58Arg) rs980193170
NM_006012.4(CLPP):c.233G>C (p.Arg78Pro) rs1599193093
NM_006941.4(SOX10):c.125_132del (p.Leu42fs) rs1601887036
NM_015205.3(ATP11A):c.3322_3327+2dup rs2140433062
NM_016239.3(MYO15A):c.[373_374delCG];[8183G>A]
NM_016239.4(MYO15A):c.10585del (p.Leu3529fs) rs2047052213
NM_016239.4(MYO15A):c.4571dup (p.Lys1525fs) rs2046256329
NM_016239.4(MYO15A):c.6340G>A (p.Val2114Met) rs377385081
NM_016239.4(MYO15A):c.707A>G (p.Tyr236Cys) rs2045862543
NM_016239.4(MYO15A):c.7207G>T (p.Asp2403Tyr) rs878853227
NM_016239.4(MYO15A):c.7745_8224+177delinsCTCCCCGGAACGGCTGCTGGTAC
NM_016239.4(MYO15A):c.8467G>A (p.Asp2823Asn) rs878853238
NM_016239.4(MYO15A):c.8897_8900dup (p.Ala2968fs) rs2046704290
NM_016239.4(MYO15A):c.9083+6T>A rs1555547112
NM_080680.3(COL11A2):c.3385G>A (p.Gly1129Arg) rs550153707
NM_080680.3(COL11A2):c.968dup (p.Ala324fs) rs1583366400
NM_138691.2(TMC1):c.[1165C>T];[1939T>C]
NM_138691.2(TMC1):c.[1210T>C];[1939T>C]
NM_138691.2(TMC1):c.[1810C>T];[1939T>C]
NM_138691.2(TMC1):c.[1810C>T];[674C>T]
NM_138691.3(TMC1):c.15dup (p.Val6fs) rs878853229
NM_138691.3(TMC1):c.229del (p.Arg77fs) rs878853230
NM_144612.6(LOXHD1):c.[4480C>T];[4714C>T]
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly) rs376104748
NM_153700.2(STRC):c.[4057C>T];[4171C>G]
NM_194248.2(OTOF):c.[4227+1G>T];[5193-1G>A]
NM_206933.2(USH2A):c.[240_241insGTAC];[3368A>G]
NM_206933.4(USH2A):c.9685del (p.Glu3229fs) rs878853233
Single allele

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