ClinVar Miner

List of variants reported as uncertain significance by University of Washington Center for Mendelian Genomics, University of Washington

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ClinVar version:
Total variants: 143
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HGVS dbSNP gnomAD frequency
NM_004934.5(CDH18):c.991T>C (p.Leu331=) rs17285716 0.14440
NM_144670.6(A2ML1):c.3676_3677del (p.Ala1226fs) rs144686314 0.03504
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489 0.01849
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp) rs4986933 0.00253
NM_144670.6(A2ML1):c.2713-8C>A rs184386564 0.00216
NM_005236.3(ERCC4):c.1488A>T (p.Gln496His) rs146601373 0.00201
NM_002582.4(PARN):c.840+6T>C rs59687658 0.00184
NM_144670.6(A2ML1):c.2197T>C (p.Phe733Leu) rs117213221 0.00051
NM_002850.4(PTPRS):c.2552G>T (p.Arg851Leu) rs199604489 0.00037
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_001190274.2(FBXO11):c.2491A>G (p.Ser831Gly) rs200771165 0.00024
NM_032656.4(DHX37):c.1399C>G (p.Leu467Val) rs149331610 0.00022
NM_015910.7(WDPCP):c.1094A>G (p.Glu365Gly) rs201662623 0.00021
NM_002582.4(PARN):c.1493G>A (p.Ser498Asn) rs200471459 0.00020
NM_012186.3(FOXE3):c.466G>A (p.Asp156Asn) rs202086896 0.00020
NM_000138.5(FBN1):c.185G>A (p.Arg62His) rs145942328 0.00012
NM_144670.6(A2ML1):c.2189G>A (p.Arg730His) rs200346409 0.00009
NM_004281.4(BAG3):c.211C>T (p.Arg71Trp) rs387906874 0.00008
NM_002582.4(PARN):c.1006-11G>A rs746114163 0.00007
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) rs756972680 0.00007
NM_144573.4(NEXN):c.1453G>A (p.Glu485Lys) rs368812830 0.00006
NM_144670.6(A2ML1):c.971-8C>T rs780868782 0.00006
NM_002582.4(PARN):c.168G>C (p.Lys56Asn) rs375964590 0.00005
NM_001394998.1(TANC2):c.2486G>A (p.Arg829His) rs775421108 0.00004
NM_002582.4(PARN):c.19A>C (p.Asn7His) rs1371498176 0.00004
NM_002850.4(PTPRS):c.3343G>A (p.Ala1115Thr) rs769925793 0.00004
NM_005633.4(SOS1):c.2156G>C (p.Gly719Ala) rs200794965 0.00004
NM_006133.3(DAGLA):c.3049G>C (p.Asp1017His) rs199764983 0.00004
NM_001256470.2(PLEKHA5):c.1249A>G (p.Met417Val) rs765143663 0.00002
NM_001256470.2(PLEKHA5):c.3119A>T (p.Lys1040Met) rs368055588 0.00002
NM_005921.2(MAP3K1):c.548G>A (p.Arg183Gln) rs1454725137 0.00002
NM_024939.3(ESRP2):c.1523C>T (p.Ser508Leu) rs143677348 0.00002
NM_144670.6(A2ML1):c.2329G>A (p.Gly777Arg) rs201288888 0.00002
NM_170707.4(LMNA):c.1960C>T (p.Arg654Ter) rs267607544 0.00002
NM_000138.5(FBN1):c.3797A>T (p.Tyr1266Phe) rs200283837 0.00001
NM_001134363.3(RBM20):c.1013T>C (p.Met338Thr) rs876657970 0.00001
NM_001200.4(BMP2):c.178A>C (p.Met60Leu) rs773113395 0.00001
NM_001256470.2(PLEKHA5):c.1660G>A (p.Gly554Arg) rs770689652 0.00001
NM_001267550.2(TTN):c.72669del (p.Asp24224fs) rs727504531 0.00001
NM_001376.5(DYNC1H1):c.10313G>A (p.Arg3438Gln) rs1375729860 0.00001
NM_001394062.1(MACF1):c.22313G>A (p.Arg7438Gln) rs1218844508 0.00001
NM_001394998.1(TANC2):c.2500C>T (p.Arg834Cys) rs1282488329 0.00001
NM_001394998.1(TANC2):c.3104G>A (p.Arg1035Gln) rs374131489 0.00001
NM_002473.6(MYH9):c.3682G>A (p.Glu1228Lys) rs746956415 0.00001
NM_002582.4(PARN):c.178-3C>T rs1394966197 0.00001
NM_002667.5(PLN):c.73C>T (p.Arg25Cys) rs761056344 0.00001
NM_004415.4(DSP):c.8477G>A (p.Arg2826His) rs548754771 0.00001
NM_005359.6(SMAD4):c.70A>G (p.Met24Val) rs876659391 0.00001
NM_005359.6(SMAD4):c.736C>A (p.Pro246Thr) rs876659967 0.00001
NM_005633.4(SOS1):c.1820T>C (p.Ile607Thr) rs758699499 0.00001
NM_005633.4(SOS1):c.2728G>C (p.Asp910His) rs369277679 0.00001
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys) rs886041241 0.00001
NM_014918.5(CHSY1):c.779G>A (p.Arg260Gln) rs1280894999 0.00001
NM_015021.3(ZNF292):c.1408A>G (p.Ile470Val) rs1166797338 0.00001
NM_024939.3(ESRP2):c.749G>A (p.Arg250Gln) rs755729355 0.00001
NM_032578.4(MYPN):c.308A>T (p.Asp103Val) rs758026056 0.00001
NM_133443.4(GPT2):c.844A>G (p.Ile282Val) rs377334484 0.00001
NM_170707.4(LMNA):c.1163G>A (p.Arg388His) rs267607576 0.00001
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys) rs58672172 0.00001
NM_170707.4(LMNA):c.952G>A (p.Ala318Thr) rs267607574 0.00001
NM_000138.5(FBN1):c.3428G>A (p.Gly1143Asp) rs1163486953
NM_000138.5(FBN1):c.6596G>A (p.Gly2199Asp) rs1566895247
NM_000138.5(FBN1):c.8121C>A (p.Asp2707Glu) rs1566889147
NM_000260.4(MYO7A):c.4107G>T (p.Gln1369His) rs1565440220
NM_000398.7(CYB5R3):c.437G>C (p.Ser146Thr) rs1928397782
NM_000430.4(PAFAH1B1):c.655T>G (p.Trp219Gly) rs2069200834
NM_000430.4(PAFAH1B1):c.743T>C (p.Leu248Pro) rs2069227815
NM_001005182.2(OR6C1):c.24del (p.Glu9fs) rs869294408
NM_001005516.1(OR5K3):c.904del (p.Ile302fs) rs79045298
NM_001005517.1(OR5K4):c.901dup (p.Ile301fs) rs11288615
NM_001042492.3(NF1):c.5816T>C (p.Ile1939Thr) rs1304057833
NM_001085458.2(CTNND1):c.1687C>G (p.Gln563Glu) rs2062434410
NM_001085458.2(CTNND1):c.1721A>G (p.Lys574Arg) rs2062435587
NM_001099737.3(WDR83):c.379G>C (p.Gly127Arg) rs749052560
NM_001134363.3(RBM20):c.2205G>A (p.Glu735=) rs1844785808
NM_001145319.2(PLS1):c.1087C>T (p.Leu363Phe) rs1560070780
NM_001145710.2(FAM228B):c.907del (p.Gln303fs) rs113322110
NM_001186.4(BACH1):c.1724G>A (p.Arg575His) rs1569017478
NM_001256470.2(PLEKHA5):c.3044T>G (p.Val1015Gly) rs958331700
NM_001267550.2(TTN):c.73568del (p.Pro24523fs) rs1559415567
NM_001281956.2(CSMD2):c.2671A>G (p.Ile891Val) rs756789191
NM_001287491.2(TET3):c.3265G>A (p.Val1089Met) rs1174857008
NM_001329630.2(PLEKHA7):c.53G>T (p.Gly18Val) rs1865545338
NM_001329630.2(PLEKHA7):c.643G>A (p.Val215Met) rs1028264032
NM_001329630.2(PLEKHA7):c.914A>T (p.Asn305Ile) rs146091349
NM_001376.5(DYNC1H1):c.10420C>T (p.Arg3474Trp) rs757725348
NM_001376.5(DYNC1H1):c.10888G>A (p.Gly3630Ser) rs2048578300
NM_001376.5(DYNC1H1):c.3161G>C (p.Trp1054Ser) rs2048038170
NM_001376.5(DYNC1H1):c.4808G>C (p.Arg1603Thr) rs1555409418
NM_001376.5(DYNC1H1):c.9954G>T (p.Lys3318Asn) rs2048518511
NM_001377534.1(DYNLT4):c.631G>C (p.Ala211Pro) rs1298092277
NM_001387994.1(BAG6):c.3415C>T (p.Arg1139Ter) rs1281308977
NM_001394998.1(TANC2):c.2603C>T (p.Ala868Val) rs2047545401
NM_001394998.1(TANC2):c.5318A>G (p.His1773Arg) rs2049010059
NM_001614.5(ACTG1):c.535G>T (p.Asp179Tyr) rs2031766655
NM_002425.3(MMP10):c.32_33del (p.Cys11fs) rs535864157
NM_002471.4(MYH6):c.5476_5477delinsAA (p.Gly1826Asn) rs878854502
NM_002582.4(PARN):c.459G>C (p.Ala153=) rs960463679
NM_002582.4(PARN):c.703-11_703-10del rs1185087862
NM_004360.5(CDH1):c.1198G>A (p.Asp400Asn) rs1960893142
NM_004360.5(CDH1):c.1926C>A (p.Tyr642Ter) rs1961172043
NM_004360.5(CDH1):c.779C>T (p.Pro260Leu) rs1960783816
NM_004360.5(CDH1):c.895G>A (p.Ala299Thr) rs1960837744
NM_004999.4(MYO6):c.2751dup (p.Gln918fs) rs551348450
NM_005051.3(QARS1):c.1412G>A (p.Cys471Tyr) rs1575400316
NM_005427.4(TP73):c.901G>A (p.Asp301Asn) rs986713005
NM_005633.4(SOS1):c.2230A>G (p.Arg744Gly) rs1669494952
NM_005633.4(SOS1):c.3601C>T (p.Arg1201Trp) rs752395541
NM_006009.4(TUBA1A):c.995T>C (p.Ile332Thr) rs587784497
NM_006444.3(SMC2):c.2763A>C (p.Lys921Asn) rs1834436764
NM_015021.3(ZNF292):c.1858G>T (p.Glu620Ter) rs1775159559
NM_015021.3(ZNF292):c.1897C>T (p.Arg633Ter) rs1775161294
NM_015021.3(ZNF292):c.1910del (p.Lys637fs) rs1775161900
NM_015021.3(ZNF292):c.3053dup (p.Gln1019fs) rs1775236367
NM_015021.3(ZNF292):c.5374_5378del (p.Asn1792fs) rs1775403177
NM_015021.3(ZNF292):c.6578A>C (p.Tyr2193Ser) rs1554208945
NM_015021.3(ZNF292):c.6661_6664del (p.Leu2221fs) rs1775494843
NM_015021.3(ZNF292):c.6935dup (p.Ser2313fs) rs1775514251
NM_015021.3(ZNF292):c.7062_7064del (p.Asn2354del) rs1775529808
NM_015021.3(ZNF292):c.7304_7308del (p.Val2435fs) rs1775548411
NM_015130.3(TBC1D9):c.3535C>T (p.His1179Tyr) rs1578810332
NM_015465.5(GEMIN5):c.2519_2522del (p.Ile840fs) rs769616395
NM_017617.5(NOTCH1):c.7178A>G (p.Gln2393Arg) rs1842918022
NM_020134.4(DPYSL5):c.139G>A (p.Gly47Arg) rs1558337060
NM_020159.5(SMARCAD1):c.2557T>A (p.Ser853Thr) rs1753894795
NM_024939.3(ESRP2):c.1636GAG[1] (p.Glu547del) rs780935292
NM_032108.4(SEMA6B):c.1834G>A (p.Val612Met) rs1279041694
NM_032597.5(MS4A14):c.167_168dup (p.Val57fs) rs869040615
NM_144670.6(A2ML1):c.1308A>C (p.Gln436His) rs780743143
NM_144670.6(A2ML1):c.164C>T (p.Thr55Ile) rs999028234
NM_144670.6(A2ML1):c.1683G>C (p.Gln561His) rs1565476223
NM_144670.6(A2ML1):c.2012T>C (p.Leu671Pro) rs1465018225
NM_144670.6(A2ML1):c.2228C>T (p.Pro743Leu) rs1565479896
NM_144670.6(A2ML1):c.2545G>T (p.Asp849Tyr) rs1408810942
NM_144670.6(A2ML1):c.2971G>C (p.Ala991Pro) rs1565484901
NM_144670.6(A2ML1):c.3491C>T (p.Ala1164Val) rs1565487941
NM_170707.4(LMNA):c.1304_1307dup (p.Ser437fs) rs267607577
NM_178012.5(TUBB2B):c.73A>G (p.Ser25Gly) rs1757291106
NM_178012.5(TUBB2B):c.747C>A (p.Asp249Glu) rs1757274789
NM_181536.2(PKD1L3):c.3695_3698del (p.Thr1232fs) rs149635567
NM_183375.5(PRSS48):c.127_131del (p.Val43fs) rs77216366

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