ClinVar Miner

List of variants reported as pathogenic 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: 47
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HGVS dbSNP
GRCh37/hg19 17p12(chr17:14215739-15422582)
NC_012920.1:m.3243A>G rs199474657
NM_000091.4(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000122.1(ERCC3):c.1421dup (p.Asp474fs) rs587778281
NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter) rs1555051455
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096
NM_001002295.2(GATA3):c.733delinsCC (p.Thr245fs)
NM_001145026.2(PTPRQ):c.6475C>T (p.Arg2159Ter) rs1445287184
NM_001199107.2(TBC1D24):c.1008del (p.His336fs) rs398122967
NM_001354604.2(MITF):c.961C>T (p.Arg321Ter) rs104893746
NM_001354689.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_001371623.1(TCOF1):c.1204C>T (p.Gln402Ter)
NM_001378454.1(ALMS1):c.2897del (p.Gln966fs)
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396
NM_005422.2(TECTA):c.5597C>T (p.Thr1866Met) rs140236996
NM_015100.4(POGZ):c.2771del (p.Pro924fs) rs1553212868
NM_015340.4(LARS2):c.1077del (p.Ile360fs) rs398123037
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter) rs587783429
NM_017780.4(CHD7):c.1513C>T (p.Gln505Ter) rs1554581757
NM_017780.4(CHD7):c.4203_4204del (p.His1401fs)
NM_023073.3(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_023073.3(CPLANE1):c.7817T>A (p.Leu2606Ter) rs749523755
NM_024022.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_033056.4(PCDH15):c.1088del (p.Leu363fs) rs199469706
NM_033056.4(PCDH15):c.2148_2155del (p.Phe717fs)
NM_033380.3(COL4A5):c.1033-1G>A
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142
NM_033380.3(COL4A5):c.3588A>G (p.Gly1196=) rs1556445736
NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter) rs147321712
NM_206933.3(USH2A):c.11549-1G>A rs878853407
NM_206933.3(USH2A):c.7524del (p.Arg2509fs) rs751176116
NM_206933.3(USH2A):c.99_100insT (p.Arg34fs) rs141672841
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.4(USH2A):c.13335_13337del (p.Glu4445_Asn4446delinsAsp)
NM_206933.4(USH2A):c.13339A>T (p.Met4447Leu)
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del)
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272

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