ClinVar Miner

List of variants reported as uncertain significance for auditory system disease by Division of Human Genetics,Children's Hospital of Philadelphia

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 56
Download table as spreadsheet
HGVS dbSNP
NM_000260.4(MYO7A):c.5495G>A (p.Arg1832Gln) rs372768607
NM_000601.6(HGF):c.983G>T (p.Arg328Leu) rs374484762
NM_001038603.3(MARVELD2):c.1660G>A (p.Val554Ile) rs199708957
NM_001128228.3(TPRN):c.2023G>A (p.Ala675Thr) rs139520402
NM_001128228.3(TPRN):c.2057C>T (p.Pro686Leu) rs727503520
NM_001128840.3(CACNA1D):c.2250C>A (p.Ile750=) rs41276445
NM_001145809.2(MYH14):c.3629G>A (p.Arg1210Gln) rs794729639
NM_001145809.2(MYH14):c.3850C>T (p.Arg1284Trp) rs201515738
NM_001256317.3(TMPRSS3):c.1149G>T (p.Met383Ile) rs727503492
NM_001277269.1(OTOG):c.1876C>T (p.Arg626Trp) rs201183725
NM_001277269.1(OTOG):c.433G>A (p.Gly145Ser) rs186893662
NM_001277269.1(OTOG):c.4877C>T (p.Pro1626Leu) rs897939885
NM_001277269.1(OTOG):c.5381T>C (p.Leu1794Pro) rs61744602
NM_001277269.1(OTOG):c.7003C>T (p.Arg2335Trp) rs755149839
NM_001277269.1(OTOG):c.935A>G (p.His312Arg) rs189159426
NM_001277269.1(OTOG):c.952G>A (p.Ala318Thr) rs553079779
NM_001614.5(ACTG1):c.521C>G (p.Ala174Gly) rs727504862
NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu) rs201847956
NM_002700.3(POU4F3):c.403C>T (p.Pro135Ser) rs200286254
NM_004999.4(MYO6):c.2716T>C (p.Ser906Pro) rs727505048
NM_005422.2(TECTA):c.3854G>C (p.Cys1285Ser) rs1060499597
NM_005422.2(TECTA):c.4384C>T (p.Arg1462Cys) rs727503462
NM_006005.3(WFS1):c.1297G>A (p.Ala433Thr) rs138771366
NM_015120.4(ALMS1):c.5371G>A (p.Gly1791Arg) rs1060499580
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp) rs146655362
NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg) rs139279977
NM_015404.4(WHRN):c.2569C>T (p.Gln857Ter) rs727504817
NM_016239.4(MYO15A):c.1196A>G (p.Tyr399Cys) rs368682932
NM_016239.4(MYO15A):c.1721G>C (p.Arg574Pro) rs964336018
NM_016239.4(MYO15A):c.4848C>G (p.Phe1616Leu) rs368430972
NM_016239.4(MYO15A):c.6580C>T (p.Arg2194Trp) rs773551819
NM_016239.4(MYO15A):c.7367C>G (p.Ala2456Gly) rs199953758
NM_017433.5(MYO3A):c.2275A>T (p.Asn759Tyr) rs201033926
NM_022124.6(CDH23):c.7517G>A (p.Arg2506Gln) rs727502932
NM_022124.6(CDH23):c.8248G>A (p.Val2750Met) rs752930006
NM_031475.3(ESPN):c.1048C>T (p.Pro350Ser) rs115143295
NM_032119.4(ADGRV1):c.17992G>A (p.Val5998Met) rs557989446
NM_033056.4(PCDH15):c.2102C>T (p.Ala701Val) rs199537178
NM_033056.4(PCDH15):c.3857T>A (p.Val1286Glu) rs375292203
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser) rs727504460
NM_138691.2(TMC1):c.624C>A (p.Ser208Arg) rs781747541
NM_138691.2(TMC1):c.938T>C (p.Phe313Ser) rs1060499599
NM_144612.6(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005
NM_144612.6(LOXHD1):c.2399T>A (p.Val800Glu) rs755485250
NM_144612.6(LOXHD1):c.3962G>C (p.Gly1321Ala) rs573953982
NM_144612.6(LOXHD1):c.5085+847_5085+859dup rs1555669048
NM_144612.6(LOXHD1):c.5554G>A (p.Gly1852Arg) rs727504988
NM_144612.6(LOXHD1):c.5616C>A (p.Asn1872Lys) rs61733519
NM_144672.4(OTOA):c.1523T>C (p.Val508Ala) rs138141474
NM_153700.2(STRC):c.4917_4918delinsCT (p.Leu1640Phe) rs727503441
NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe) rs2920791
NM_194248.3(OTOF):c.154G>A (p.Val52Met) rs199992845
NM_194248.3(OTOF):c.2034_2042dup (p.676_678AGD[3]) rs794729640
NM_194248.3(OTOF):c.5938G>T (p.Ala1980Ser) rs62640381
NM_206933.4(USH2A):c.3043C>T (p.His1015Tyr) rs142302070
NM_206933.4(USH2A):c.8200G>A (p.Val2734Met) rs397518035

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.