ClinVar Miner

List of variants reported as uncertain significance for auditory system disease by Centre for Mendelian Genomics,University Medical Centre Ljubljana

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 108
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HGVS dbSNP
GRCh37/hg19 15q25.2-25.3(chr15:85149690-85666309)
NC_012920.1:m.9355A>T rs1556423663
NM_000091.4(COL4A3):c.1354G>A (p.Gly452Arg) rs772958162
NM_000091.4(COL4A3):c.765G>A (p.Thr255=) rs869025328
NM_000091.5(COL4A3):c.706G>A (p.Gly236Arg)
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys) rs199818783
NM_000260.4(MYO7A):c.1817G>A (p.Arg606His) rs782311929
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.3375+3G>A rs397516299
NM_000260.4(MYO7A):c.359G>A (p.Arg120His) rs369493667
NM_000260.4(MYO7A):c.3750+20C>T
NM_000260.4(MYO7A):c.5982G>A (p.Met1994Ile)
NM_000260.4(MYO7A):c.6362C>T (p.Thr2121Met)
NM_000400.3(ERCC2):c.1381C>G (p.Leu461Val) rs121913016
NM_000400.3(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120
NM_000441.2(SLC26A4):c.1730T>C (p.Val577Ala) rs56017519
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457
NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln) rs202140413
NM_001127453.2(GSDME):c.456T>G (p.Asn152Lys) rs148449230
NM_001130823.3(DNMT1):c.2920C>T (p.Arg974Cys)
NM_001130823.3(DNMT1):c.3042G>C (p.Glu1014Asp)
NM_001142769.3(PCDH15):c.4864A>G (p.Ser1622Gly) rs372184022
NM_001142771.2(PCDH15):c.4666A>G (p.Thr1556Ala)
NM_001142771.2(PCDH15):c.4871A>G (p.Asn1624Ser)
NM_001145809.2(MYH14):c.1945+6G>A rs1057518869
NM_001145809.2(MYH14):c.2347C>T (p.Arg783Trp)
NM_001145809.2(MYH14):c.2599C>T (p.Arg867Cys)
NM_001145809.2(MYH14):c.4582G>A (p.Glu1528Lys)
NM_001145809.2(MYH14):c.5105T>C (p.Val1702Ala) rs775130663
NM_001145809.2(MYH14):c.5281C>T (p.Arg1761Trp)
NM_001145809.2(MYH14):c.6097G>C (p.Ala2033Pro)
NM_001145809.2(MYH14):c.6101A>C (p.His2034Pro)
NM_001145809.2(MYH14):c.6108_6111del (p.Gln2036fs)
NM_001145809.2(MYH14):c.91C>T (p.Pro31Ser)
NM_001195263.2(PDZD7):c.1013G>T (p.Ser338Ile)
NM_001199107.2(TBC1D24):c.1205A>C (p.Glu402Ala)
NM_001199107.2(TBC1D24):c.1439C>T (p.Ser480Leu)
NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp) rs748302886
NM_001354604.2(MITF):c.104+24188C>G
NM_001354604.2(MITF):c.1150G>T (p.Ala384Ser)
NM_001354689.3(RAF1):c.332G>A (p.Arg111His)
NM_001366722.1(GRIP1):c.2423C>T (p.Ser808Leu)
NM_001371623.1(TCOF1):c.4070C>T (p.Ala1357Val)
NM_001614.5(ACTG1):c.1013C>T (p.Ser338Leu) rs1192977984
NM_001851.6(COL9A1):c.2174T>C (p.Val725Ala)
NM_001851.6(COL9A1):c.352C>T (p.Arg118Ter)
NM_002160.4(TNC):c.6496-18del
NM_002160.4(TNC):c.890A>G (p.Asn297Ser) rs1554717312
NM_002691.4(POLD1):c.1384-10A>C
NM_002691.4(POLD1):c.2221G>A (p.Val741Met)
NM_002691.4(POLD1):c.2623C>T (p.Arg875Cys) rs751565067
NM_002700.3(POU4F3):c.553C>T (p.Arg185Cys) rs746613906
NM_002834.5(PTPN11):c.1739A>G (p.Tyr580Cys)
NM_002834.5(PTPN11):c.643-6G>A
NM_002968.3(SALL1):c.3787A>G (p.Ile1263Val)
NM_004278.4(PIGL):c.176C>A (p.Pro59His) rs1057518948
NM_004278.4(PIGL):c.263G>A (p.Arg88His) rs755380500
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331
NM_004278.4(PIGL):c.725G>C (p.Arg242Pro)
NM_004999.4(MYO6):c.2063A>T (p.Gln688Leu)
NM_005219.5(DIAPH1):c.2733G>T (p.Lys911Asn)
NM_005219.5(DIAPH1):c.3162C>A (p.Asn1054Lys)
NM_005219.5(DIAPH1):c.3641G>A (p.Arg1214Gln)
NM_005262.3(GFER):c.280G>A (p.Asp94Asn)
NM_005391.5(PDK3):c.106+14_106+15dup
NM_005422.2(TECTA):c.4214G>A (p.Gly1405Asp) rs1216336175
NM_005422.4(TECTA):c.2644G>A (p.Glu882Lys)
NM_005422.4(TECTA):c.4932C>A (p.Ser1644Arg)
NM_006005.3(WFS1):c.2437G>A (p.Val813Met) rs756972444
NM_006941.4(SOX10):c.718A>C (p.Thr240Pro)
NM_014208.3(DSPP):c.-21T>C rs1553903873
NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val) rs142351862
NM_017780.4(CHD7):c.1405A>G (p.Arg469Gly)
NM_017780.4(CHD7):c.1676C>T (p.Ser559Leu)
NM_017780.4(CHD7):c.299C>A (p.Ser100Tyr)
NM_017780.4(CHD7):c.3659C>A (p.Ala1220Asp)
NM_017780.4(CHD7):c.3712G>A (p.Val1238Ile) rs794727150
NM_017780.4(CHD7):c.6103+9A>G
NM_017780.4(CHD7):c.6551A>T (p.Lys2184Met)
NM_017780.4(CHD7):c.6817A>G (p.Asn2273Asp)
NM_017780.4(CHD7):c.7958G>A (p.Arg2653Gln)
NM_017780.4(CHD7):c.8182G>T (p.Ala2728Ser)
NM_017780.4(CHD7):c.8957G>C (p.Gly2986Ala)
NM_025074.7(FRAS1):c.6303C>G (p.His2101Gln)
NM_031475.3(ESPN):c.2150A>G (p.Asn717Ser) rs921702586
NM_033056.4(PCDH15):c.5152C>T (p.Pro1718Ser)
NM_033056.4(PCDH15):c.5573_5576dup (p.Lys1859delinsAsnTer)
NM_033056.4(PCDH15):c.5650A>G (p.Arg1884Gly)
NM_033380.3(COL4A5):c.1483C>A (p.Gln495Lys)
NM_033380.3(COL4A5):c.808G>A (p.Gly270Arg) rs1556406783
NM_138691.2(TMC1):c.1141T>A (p.Tyr381Asn) rs749491943
NM_138691.3(TMC1):c.1201C>A (p.Leu401Ile)
NM_153676.4(USH1C):c.1053G>C (p.Glu351Asp)
NM_170682.4(P2RX2):c.905G>C (p.Arg302Thr)
NM_206933.3(USH2A):c.11714G>A (p.Arg3905His) rs201709470
NM_206933.3(USH2A):c.7541A>G (p.Asn2514Ser) rs150060240
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu) rs115403785
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro) rs143275144
NM_206933.4(USH2A):c.2750G>A (p.Ser917Asn)
NM_206933.4(USH2A):c.3713C>T (p.Thr1238Ile)
NM_206933.4(USH2A):c.4040G>A (p.Ser1347Asn)
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239
NM_206933.4(USH2A):c.6668G>A (p.Gly2223Asp)
NM_206933.4(USH2A):c.6805+195T>G
NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser) rs370155266
NM_207361.6(FREM2):c.5417G>A (p.Gly1806Asp) rs145208009

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