ClinVar Miner

List of variants reported as pathogenic by King Laboratory, University of Washington

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ClinVar version:
Total variants: 154
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=) rs142459158 0.00061
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397 0.00011
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) rs111033308 0.00006
NM_013296.5(GPSM2):c.379C>T (p.Arg127Ter) rs267606854 0.00006
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter) rs121908073 0.00006
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter) rs41298133 0.00004
NM_013296.5(GPSM2):c.1492C>T (p.Arg498Ter) rs370907055 0.00004
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_007294.4(BRCA1):c.594-2A>C rs80358033 0.00003
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His) rs374334794 0.00003
NM_000059.4(BRCA2):c.8331+3A>C rs876659382 0.00002
NM_001384474.1(LOXHD1):c.757C>T (p.Gln253Ter) rs909435840 0.00002
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132 0.00002
NM_153700.2(STRC):c.5188C>T (p.Arg1730Ter) rs139956283 0.00002
NM_000051.4(ATM):c.7629+2T>C rs786203059 0.00001
NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=) rs80359800 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) rs28897756 0.00001
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter) rs111033182 0.00001
NM_000260.4(MYO7A):c.6211C>T (p.Gln2071Ter) rs1060499802 0.00001
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser) rs1060499808 0.00001
NM_000441.2(SLC26A4):c.415+7A>G rs765884316 0.00001
NM_001042702.5(PJVK):c.406C>T (p.Arg136Ter) rs367688416 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007294.4(BRCA1):c.4485-1G>A rs80358189 0.00001
NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=) rs786203868 0.00001
NM_013296.5(GPSM2):c.832C>T (p.Arg278Ter) rs762285081 0.00001
NM_024675.4(PALB2):c.2559C>T (p.Gly853=) rs180177115 0.00001
NM_058216.3(RAD51C):c.904+5G>T rs587782702 0.00001
NM_153700.2(STRC):c.3217C>T (p.Arg1073Ter) rs876657725 0.00001
NM_153700.2(STRC):c.4012C>T (p.Arg1338Ter) rs755471554 0.00001
GRCh38/hg38 13q13.1(chr13:32353598-32384308)
NC_000005.10:g.90118339_90119245del
NC_000011.10:g.61969097_61969098insGA
NC_000013.11:g.32315358_32316294del rs2072242904
NG_008150.2:g.14927_51132dup
NM_000051.4(ATM):c.-30-1G>T rs869312754
NM_000051.4(ATM):c.2638+2T>C rs587779826
NM_000051.4(ATM):c.3154-1G>A rs1555085973
NM_000051.4(ATM):c.5497-2A>C rs786203796
NM_000051.4(ATM):c.5674+1G>T rs1565482453
NM_000051.4(ATM):c.6976-2A>C rs587782403
NM_000051.4(ATM):c.7089+1_7089+38del rs2085827807
NM_000051.4(ATM):c.8418+5_8418+8del rs730881295
NM_000051.4(ATM):c.8988-1G>A rs730881386
NM_000051.4(ATM):c.901G>A (p.Gly301Ser) rs1064797160
NM_000059.4(BRCA2):c.517-2A>G rs81002858
NM_000059.4(BRCA2):c.7007+1G>C rs397507891
NM_000059.4(BRCA2):c.7007+5G>A rs81002816
NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro) rs28897743
NM_000059.4(BRCA2):c.7618-1G>A rs397507389
NM_000059.4(BRCA2):c.7802A>G (p.Tyr2601Cys) rs786202344
NM_000059.4(BRCA2):c.7976+2C>G rs886040943
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000249.4(MLH1):c.1732-264A>T rs2085261656
NM_000251.3(MSH2):c.2635-24A>G rs1667575488
NM_000260.4(MYO7A):c.2307del (p.Asn769fs) rs1060499800
NM_000260.4(MYO7A):c.4153-2A>G rs1060499803
NM_000260.4(MYO7A):c.4297C>T (p.Gln1433Ter) rs2135620605
NM_000260.4(MYO7A):c.4951G>A (p.Gly1651Ser) rs1201586094
NM_000260.4(MYO7A):c.5095C>T (p.Gln1699Ter) rs530520654
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter) rs1060499801
NM_000260.4(MYO7A):c.6229dup (p.Trp2077fs) rs2135785880
NM_000307.5(POU3F4):c.300dup (p.Val101fs)
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1054del (p.Ala352fs) rs2129315801
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.1341+1del rs397516417
NM_000441.2(SLC26A4):c.284G>A (p.Gly95Glu) rs2129309208
NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg) rs1219724284
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000465.4(BARD1):c.1569-12T>G rs879254246
NM_000465.4(BARD1):c.159-1G>T rs879254139
NM_000465.4(BARD1):c.159T>G (p.Cys53Trp) rs201708813
NM_000465.4(BARD1):c.212G>A (p.Cys71Tyr) rs1064793959
NM_000465.4(BARD1):c.247T>C (p.Cys83Arg) rs1559437198
NM_000546.6(TP53):c.124_132del (p.Asp42_Met44del) rs2151043202
NM_001002295.2(GATA3):c.1050+2T>C rs1832899364
NM_001002295.2(GATA3):c.393dup (p.Val132fs)
NM_001038603.3(MARVELD2):c.608dup (p.Leu203fs) rs2150914115
NM_001039141.3(TRIOBP):c.1783C>T (p.Arg595Ter) rs371412957
NM_001039141.3(TRIOBP):c.1861C>T (p.Arg621Ter)
NM_001039141.3(TRIOBP):c.2581C>T (p.Arg861Ter)
NM_001039876.3(SYNE4):c.336C>A (p.Cys112Ter)
NM_001127453.2(GSDME):c.991-21TTC[2] rs727505273
NM_001199799.2(ILDR1):c.294del (p.Val99fs) rs2071591086
NM_001199799.2(ILDR1):c.820C>T (p.Gln274Ter) rs2107644932
NM_001256317.3(TMPRSS3):c.999del (p.Asp334fs)
NM_001292063.2(OTOG):c.3546C>A (p.Tyr1182Ter)
NM_001292063.2(OTOG):c.6469del (p.Leu2156_Val2157insTer)
NM_001292063.2(OTOG):c.7686C>G (p.Tyr2562Ter)
NM_001330368.2(C11orf65):c.640+16147_640+22966del
NM_001384140.1(PCDH15):c.4671+1164_4671+1167del rs483353074
NM_001384140.1(PCDH15):c.4671+1217C>T rs1056396947
NM_001384140.1(PCDH15):c.4671+1349_4671+1353dup
NM_002700.3(POU4F3):c.54del (p.Glu18fs) rs2126960889
NM_002700.3(POU4F3):c.694G>T (p.Glu232Ter) rs2126961780
NM_002878.4(RAD51D):c.738+402_*1465del
NM_002878.4(RAD51D):c.904-2A>T rs1403784434
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004100.5(EYA4):c.992dup (p.Ser331fs)
NM_004360.5(CDH1):c.1565+1G>A rs587780113
NM_004360.5(CDH1):c.1711G>A (p.Gly571Ser) rs786202290
NM_005422.4(TECTA):c.1705C>T (p.Gln569Ter) rs1946605498
NM_005422.4(TECTA):c.1756C>T (p.Arg586Ter)
NM_005422.4(TECTA):c.4857C>A (p.Cys1619Ter) rs764153521
NM_005422.4(TECTA):c.5609A>G (p.Tyr1870Cys) rs121909058
NM_005450.6(NOG):c.41T>C (p.Leu14Pro) rs1354515769
NM_005797.4(MPZL2):c.161del (p.Pro54fs)
NM_006941.4(SOX10):c.1195_1196del (p.Gln399fs)
NM_006941.4(SOX10):c.383dup (p.His128fs)
NM_006941.4(SOX10):c.481C>T (p.Arg161Cys) rs2145768544
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007294.4(BRCA1):c.212+1G>A rs80358042
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met) rs80357389
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile) rs80357034
NM_007294.4(BRCA1):c.5194-12G>A rs80358079
NM_007294.4(BRCA1):c.5277+1G>A rs80358150
NM_007294.4(BRCA1):c.5406+4_5406+7del rs1555575073
NM_007294.4(BRCA1):c.5468-1G>A rs80358048
NM_013296.5(GPSM2):c.977G>A (p.Trp326Ter) rs1060499797
NM_016239.4(MYO15A):c.6194del (p.Met2065fs)
NM_016239.4(MYO15A):c.6599C>A (p.Ser2200Ter)
NM_016239.4(MYO15A):c.8831del (p.Pro2944fs)
NM_017433.5(MYO3A):c.1370_1371del (p.Arg457fs) rs760866131
NM_021830.5(TWNK):c.333del (p.Leu112fs) rs886037832
NM_022772.4(EPS8L2):c.1430dup (p.Val478fs) rs758700198
NM_022772.4(EPS8L2):c.148_149insGGACA (p.Ser50fs) rs2133499883
NM_024675.4(PALB2):c.2835-1G>C rs515726099
NM_031475.3(ESPN):c.2081_2082del (p.Ser694fs) rs2148538836
NM_031475.3(ESPN):c.2496C>G (p.Tyr832Ter)
NM_032043.3(BRIP1):c.82A>G (p.Met28Val) rs1330147176
NM_032043.3(BRIP1):c.93+1G>A rs587782047
NM_033380.3(COL4A5):c.4377del (p.Gly1460fs) rs1603323174
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_138691.3(TMC1):c.1184del (p.Gln395fs) rs2118181420
NM_144672.4(OTOA):c.1560_1563del (p.Phe521fs) rs2141700836
NM_153700.2(STRC):c.2545C>T (p.Arg849Ter)
NM_173477.5(USH1G):c.1324del (p.Ala442fs)
NM_173477.5(USH1G):c.85dup (p.Asp29fs)
NM_181458.4(PAX3):c.251C>T (p.Ser84Phe) rs104893651
NM_181458.4(PAX3):c.812G>A (p.Arg271His) rs774528745
NM_182548.4(LHFPL5):c.*16+1G>A rs1445573930
NM_194248.3(OTOF):c.2239G>T (p.Glu747Ter) rs397515591
NM_194248.3(OTOF):c.4030C>T (p.Arg1344Ter) rs1060499805
NM_194248.3(OTOF):c.4759A>T (p.Lys1587Ter)
NM_206933.4(USH2A):c.9685del (p.Glu3229fs) rs878853233
NM_206933.4(USH2A):c.9699del (p.His3234fs)
PALB2:c.2515-1G>T rs587776417

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