ClinVar Miner

List of variants reported as uncertain significance for auditory system disorder by Natera, Inc.

Included ClinVar conditions (325):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 175
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HGVS dbSNP gnomAD frequency
NM_001384474.1(LOXHD1):c.6741C>T (p.Ala2247=) rs189873733 0.00308
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys) rs367630521 0.00138
NM_001384474.1(LOXHD1):c.5767C>G (p.Gln1923Glu) rs377368588 0.00137
NM_001384474.1(LOXHD1):c.1961C>T (p.Pro654Leu) rs369297699 0.00133
NM_001384474.1(LOXHD1):c.3426G>A (p.Val1142=) rs200068167 0.00130
NM_001384474.1(LOXHD1):c.1244T>G (p.Val415Gly) rs529972175 0.00125
NM_001384474.1(LOXHD1):c.177G>A (p.Thr59=) rs116413527 0.00108
NM_001384474.1(LOXHD1):c.5546A>C (p.Asp1849Ala) rs376636291 0.00091
NM_001384474.1(LOXHD1):c.5399+6T>C rs374607583 0.00083
NM_001384474.1(LOXHD1):c.4244G>A (p.Arg1415Gln) rs374728484 0.00073
NM_001384474.1(LOXHD1):c.2998C>T (p.Arg1000Trp) rs199847981 0.00069
NM_001384474.1(LOXHD1):c.4130G>A (p.Arg1377Gln) rs150095081 0.00062
NM_001384474.1(LOXHD1):c.5410G>A (p.Glu1804Lys) rs200242497 0.00056
NM_001384474.1(LOXHD1):c.889A>C (p.Thr297Pro) rs117747744 0.00056
NM_001384474.1(LOXHD1):c.5693-8C>A rs544020946 0.00053
NM_001384474.1(LOXHD1):c.4523G>A (p.Arg1508Lys) rs199518750 0.00046
NM_004004.6(GJB2):c.*1C>T rs111033327 0.00045
NM_001384474.1(LOXHD1):c.2575C>T (p.Arg859Trp) rs372546084 0.00043
NM_001384474.1(LOXHD1):c.6524T>C (p.Phe2175Ser) rs546735322 0.00042
NM_001384474.1(LOXHD1):c.6460G>A (p.Val2154Ile) rs182149228 0.00041
NM_001384474.1(LOXHD1):c.722A>G (p.Asn241Ser) rs191697915 0.00041
NM_001384474.1(LOXHD1):c.1868G>A (p.Arg623Lys) rs373151735 0.00039
NM_001384474.1(LOXHD1):c.916G>A (p.Asp306Asn) rs769059187 0.00039
NM_001384474.1(LOXHD1):c.197C>G (p.Thr66Arg) rs199536893 0.00038
NM_001384474.1(LOXHD1):c.166G>A (p.Gly56Ser) rs200763838 0.00036
NM_001384474.1(LOXHD1):c.4082G>A (p.Arg1361His) rs374474061 0.00032
NM_001384474.1(LOXHD1):c.2100G>A (p.Thr700=) rs367826075 0.00030
NM_001384474.1(LOXHD1):c.6082G>A (p.Gly2028Ser) rs569121054 0.00025
NM_001384474.1(LOXHD1):c.1571G>A (p.Arg524His) rs187658135 0.00022
NM_001384474.1(LOXHD1):c.3874C>T (p.Leu1292Phe) rs200792636 0.00022
NM_001384474.1(LOXHD1):c.6055G>A (p.Glu2019Lys) rs373848470 0.00022
NM_001384474.1(LOXHD1):c.6243T>C (p.Cys2081=) rs199645176 0.00018
NM_001384474.1(LOXHD1):c.1730T>G (p.Leu577Arg) rs727503147 0.00017
NM_001384474.1(LOXHD1):c.6462C>G (p.Val2154=) rs141737883 0.00016
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) rs150529554 0.00016
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194 0.00015
NM_001384474.1(LOXHD1):c.3166G>A (p.Glu1056Lys) rs200260213 0.00014
NM_001384474.1(LOXHD1):c.854A>G (p.Asp285Gly) rs1354495647 0.00014
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr) rs201004645 0.00014
NM_001384474.1(LOXHD1):c.287G>A (p.Arg96Gln) rs376467400 0.00013
NM_001384474.1(LOXHD1):c.3852C>T (p.Asp1284=) rs487706 0.00013
NM_001384474.1(LOXHD1):c.4554C>T (p.Ala1518=) rs376705239 0.00013
NM_001384474.1(LOXHD1):c.5390A>G (p.Lys1797Arg) rs368286192 0.00013
NM_001384474.1(LOXHD1):c.683C>T (p.Pro228Leu) rs372408513 0.00012
NM_001384474.1(LOXHD1):c.1476G>T (p.Trp492Cys) rs369682197 0.00011
NM_001384474.1(LOXHD1):c.1759C>T (p.Arg587Trp) rs540100675 0.00011
NM_001384474.1(LOXHD1):c.4756C>T (p.Arg1586Cys) rs773223976 0.00010
NM_001384474.1(LOXHD1):c.5387A>G (p.Lys1796Arg) rs370816148 0.00010
NM_001384474.1(LOXHD1):c.6562C>T (p.Arg2188Trp) rs771007568 0.00010
NM_001384474.1(LOXHD1):c.6640G>A (p.Gly2214Ser) rs769490340 0.00010
NM_001384474.1(LOXHD1):c.811C>T (p.Arg271Cys) rs727503151 0.00010
NM_004004.6(GJB2):c.37G>A (p.Val13Met) rs768130937 0.00010
NM_001384474.1(LOXHD1):c.1640G>A (p.Arg547His) rs184173766 0.00009
NM_001384474.1(LOXHD1):c.5085+6G>A rs373466081 0.00009
NM_001384474.1(LOXHD1):c.5514G>A (p.Glu1838=) rs749182319 0.00009
NM_001384474.1(LOXHD1):c.1008C>T (p.Gly336=) rs1444868169 0.00008
NM_001384474.1(LOXHD1):c.210G>T (p.Glu70Asp) rs876657859 0.00008
NM_001384474.1(LOXHD1):c.2863G>C (p.Glu955Gln) rs548893604 0.00008
NM_001384474.1(LOXHD1):c.6363C>A (p.Cys2121Ter) rs754765193 0.00008
NM_004004.6(GJB2):c.425T>C (p.Phe142Ser) rs116769964 0.00007
NM_001384474.1(LOXHD1):c.2399T>A (p.Val800Glu) rs755485250 0.00006
NM_001384474.1(LOXHD1):c.286C>T (p.Arg96Trp) rs397517861 0.00006
NM_001384474.1(LOXHD1):c.3335T>C (p.Met1112Thr) rs371252446 0.00006
NM_001384474.1(LOXHD1):c.3461G>A (p.Gly1154Asp) rs727503142 0.00006
NM_001384474.1(LOXHD1):c.3936C>G (p.Leu1312=) rs533251927 0.00006
NM_001384474.1(LOXHD1):c.4376-6G>A rs369463541 0.00006
NM_001384474.1(LOXHD1):c.5400-7C>G rs376131738 0.00006
NM_001384474.1(LOXHD1):c.5740G>A (p.Gly1914Arg) rs727504988 0.00006
NM_001384474.1(LOXHD1):c.5911G>T (p.Asp1971Tyr) rs727504544 0.00006
NM_001384474.1(LOXHD1):c.1844G>A (p.Arg615Gln) rs546893082 0.00005
NM_001384474.1(LOXHD1):c.5357A>G (p.Asn1786Ser) rs192929296 0.00005
NM_004004.6(GJB2):c.-22-18T>A rs778602324 0.00005
NM_001384474.1(LOXHD1):c.176C>T (p.Thr59Met) rs374871163 0.00004
NM_001384474.1(LOXHD1):c.2721C>T (p.Asp907=) rs755305237 0.00004
NM_001384474.1(LOXHD1):c.4190G>A (p.Arg1397His) rs727505122 0.00004
NM_001384474.1(LOXHD1):c.5454A>G (p.Pro1818=) rs763569894 0.00004
NM_001384474.1(LOXHD1):c.5479G>A (p.Asp1827Asn) rs1167683873 0.00004
NM_001384474.1(LOXHD1):c.6197C>T (p.Thr2066Met) rs368303635 0.00004
NM_001384474.1(LOXHD1):c.621G>A (p.Arg207=) rs200328459 0.00004
NM_001384474.1(LOXHD1):c.6229A>T (p.Ile2077Phe) rs563899816 0.00004
NM_004004.6(GJB2):c.385G>A (p.Glu129Lys) rs397516875 0.00004
NM_004004.6(GJB2):c.587T>C (p.Ile196Thr) rs765172751 0.00004
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) rs375599392 0.00004
NM_001384474.1(LOXHD1):c.1605A>G (p.Ile535Met) rs770710016 0.00003
NM_001384474.1(LOXHD1):c.1828G>A (p.Glu610Lys) rs535637788 0.00003
NM_001384474.1(LOXHD1):c.2288C>T (p.Ala763Val) rs876657858 0.00003
NM_001384474.1(LOXHD1):c.277G>A (p.Asp93Asn) rs747038125 0.00003
NM_001384474.1(LOXHD1):c.3218C>G (p.Thr1073Arg) rs1353205519 0.00003
NM_001384474.1(LOXHD1):c.5623G>A (p.Val1875Ile) rs367623969 0.00003
NM_001384474.1(LOXHD1):c.5942T>C (p.Phe1981Ser) rs1005361609 0.00003
NM_001384474.1(LOXHD1):c.6068A>G (p.Glu2023Gly) rs572863376 0.00003
NM_004004.6(GJB2):c.-7G>A rs398123813 0.00003
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) rs28931592 0.00003
NM_004004.6(GJB2):c.488T>C (p.Met163Thr) rs1273330603 0.00003
NM_001384474.1(LOXHD1):c.1371T>A (p.Asp457Glu) rs755819004 0.00002
NM_001384474.1(LOXHD1):c.170C>T (p.Ala57Val) rs1131691786 0.00002
NM_001384474.1(LOXHD1):c.2728C>G (p.Pro910Ala) rs1015707963 0.00002
NM_001384474.1(LOXHD1):c.3654C>T (p.Ser1218=) rs774278587 0.00002
NM_001384474.1(LOXHD1):c.3811A>G (p.Met1271Val) rs1377630828 0.00002
NM_001384474.1(LOXHD1):c.6321C>T (p.Thr2107=) rs1238383222 0.00002
NM_001384474.1(LOXHD1):c.6322G>A (p.Glu2108Lys) rs774836161 0.00002
NM_001384474.1(LOXHD1):c.6716T>C (p.Val2239Ala) rs776112233 0.00002
NM_001384474.1(LOXHD1):c.6812C>T (p.Pro2271Leu) rs950165733 0.00002
NM_001384474.1(LOXHD1):c.91G>C (p.Asp31His) rs876657862 0.00002
NM_004004.6(GJB2):c.677T>G (p.Val226Gly) rs773846324 0.00002
NM_001384474.1(LOXHD1):c.*4G>A rs876657856 0.00001
NM_001384474.1(LOXHD1):c.1061T>A (p.Leu354His) rs727503150 0.00001
NM_001384474.1(LOXHD1):c.1469G>A (p.Arg490Gln) rs397517860 0.00001
NM_001384474.1(LOXHD1):c.1833T>C (p.Ser611=) rs918348196 0.00001
NM_001384474.1(LOXHD1):c.1872C>T (p.His624=) rs751871989 0.00001
NM_001384474.1(LOXHD1):c.1912G>A (p.Val638Met) rs876657854 0.00001
NM_001384474.1(LOXHD1):c.2035G>A (p.Ala679Thr) rs779377762 0.00001
NM_001384474.1(LOXHD1):c.2112C>A (p.Val704=) rs1017933129 0.00001
NM_001384474.1(LOXHD1):c.2332G>A (p.Gly778Ser) rs876657860 0.00001
NM_001384474.1(LOXHD1):c.246-5T>C rs1453735142 0.00001
NM_001384474.1(LOXHD1):c.2676C>T (p.Phe892=) rs568152703 0.00001
NM_001384474.1(LOXHD1):c.2677G>A (p.Val893Met) rs769899814 0.00001
NM_001384474.1(LOXHD1):c.2729C>T (p.Pro910Leu) rs534815867 0.00001
NM_001384474.1(LOXHD1):c.2770C>T (p.Arg924Trp) rs886053832 0.00001
NM_001384474.1(LOXHD1):c.2910G>A (p.Met970Ile) rs1485784156 0.00001
NM_001384474.1(LOXHD1):c.3428A>T (p.Asp1143Val) rs727503143 0.00001
NM_001384474.1(LOXHD1):c.3657T>A (p.Asp1219Glu) rs397517862 0.00001
NM_001384474.1(LOXHD1):c.4256C>T (p.Thr1419Ile) rs866017859 0.00001
NM_001384474.1(LOXHD1):c.4281T>G (p.Ile1427Met) rs727503140 0.00001
NM_001384474.1(LOXHD1):c.4531-9G>A rs1409319193 0.00001
NM_001384474.1(LOXHD1):c.458G>A (p.Arg153His) rs778691392 0.00001
NM_001384474.1(LOXHD1):c.4818C>T (p.Ala1606=) rs976758061 0.00001
NM_001384474.1(LOXHD1):c.5273T>A (p.Val1758Asp) rs727503139 0.00001
NM_001384474.1(LOXHD1):c.5314G>A (p.Gly1772Arg) rs775186197 0.00001
NM_001384474.1(LOXHD1):c.5731G>A (p.Gly1911Arg) rs780560784 0.00001
NM_001384474.1(LOXHD1):c.5979G>A (p.Glu1993=) rs1402378599 0.00001
NM_001384474.1(LOXHD1):c.611-7C>T rs916137735 0.00001
NM_001384474.1(LOXHD1):c.6516C>T (p.Ala2172=) rs886042223 0.00001
NM_001384474.1(LOXHD1):c.6595G>A (p.Glu2199Lys) rs376559755 0.00001
NM_001384474.1(LOXHD1):c.663C>G (p.Asp221Glu) rs1304841781 0.00001
NM_004004.6(GJB2):c.*4A>G rs745748793 0.00001
NM_004004.6(GJB2):c.-22-7T>C rs372197957 0.00001
NM_004004.6(GJB2):c.146C>T (p.Ala49Val) rs1057517976 0.00001
NM_004004.6(GJB2):c.14C>T (p.Thr5Met) rs781085903 0.00001
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309 0.00001
NM_004004.6(GJB2):c.331A>G (p.Ile111Val) rs1003660637 0.00001
NM_004004.6(GJB2):c.358G>A (p.Glu120Lys) rs528216023 0.00001
NM_004004.6(GJB2):c.490C>G (p.Gln164Glu) rs757699303 0.00001
NM_004004.6(GJB2):c.566C>A (p.Thr189Asn) rs199790409 0.00001
NM_001384474.1(LOXHD1):c.1810-6C>A rs199804946
NM_001384474.1(LOXHD1):c.1810-6C>G rs199804946
NM_001384474.1(LOXHD1):c.2251C>T (p.Arg751Trp) rs376539851
NM_001384474.1(LOXHD1):c.2557C>T (p.Arg853Cys) rs202178613
NM_001384474.1(LOXHD1):c.2696G>A (p.Arg899Gln) rs745683775
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro) rs745683775
NM_001384474.1(LOXHD1):c.3145G>A (p.Glu1049Lys) rs727504468
NM_001384474.1(LOXHD1):c.3283A>G (p.Asn1095Asp) rs2037387758
NM_001384474.1(LOXHD1):c.3287_3295del (p.Thr1096_Asn1098del) rs1488153218
NM_001384474.1(LOXHD1):c.3619+9G>A rs576031049
NM_001384474.1(LOXHD1):c.3626C>T (p.Thr1209Ile) rs727504804
NM_001384474.1(LOXHD1):c.3689C>T (p.Thr1230Met) rs546426989
NM_001384474.1(LOXHD1):c.4090G>T (p.Val1364Leu) rs144935513
NM_001384474.1(LOXHD1):c.4251T>C (p.Leu1417=) rs2036156768
NM_001384474.1(LOXHD1):c.4757G>T (p.Arg1586Leu) rs369890906
NM_001384474.1(LOXHD1):c.4760G>C (p.Ser1587Thr) rs1318916998
NM_001384474.1(LOXHD1):c.4957G>A (p.Gly1653Arg) rs374897301
NM_001384474.1(LOXHD1):c.4957G>C (p.Gly1653Arg) rs374897301
NM_001384474.1(LOXHD1):c.4993G>T (p.Asp1665Tyr) rs200490958
NM_001384474.1(LOXHD1):c.5722A>C (p.Ile1908Leu) rs781097312
NM_001384474.1(LOXHD1):c.6268C>T (p.Arg2090Trp) rs569341831
NM_001384474.1(LOXHD1):c.6314C>A (p.Thr2105Asn) rs1555653083
NM_001384474.1(LOXHD1):c.6481A>G (p.Thr2161Ala) rs2032151816
NM_004004.6(GJB2):c.-16C>T rs759745271
NM_004004.6(GJB2):c.-263C>G rs1593353804
NM_004004.6(GJB2):c.100A>T (p.Met34Leu) rs564084861
NM_004004.6(GJB2):c.187G>T (p.Val63Leu) rs370696868
NM_004004.6(GJB2):c.284T>C (p.Val95Ala) rs1250849257
NM_004004.6(GJB2):c.322A>G (p.Lys108Glu) rs1959059283
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr) rs111033225

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