ClinVar Miner

List of variants reported as pathogenic for auditory system disorder by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (325):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val) rs143797113 0.00046
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303 0.00039
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849 0.00029
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086 0.00021
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) rs111033244 0.00016
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270 0.00016
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397 0.00011
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter) rs118203957 0.00009
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) rs111033308 0.00006
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508 0.00004
NM_004004.6(GJB2):c.550C>T (p.Arg184Trp) rs998045226 0.00003
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_000441.2(SLC26A4):c.916dup (p.Val306fs) rs768245266 0.00001
NC_000013.11:g.20222821_20531941del
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_001080476.3(GRXCR1):c.550G>T (p.Glu184Ter) rs2109775078
NM_001128228.3(TPRN):c.943dup (p.Leu315fs)
NM_001195263.2(PDZD7):c.668del (p.Gly223fs)
NM_001292063.2(OTOG):c.2523T>A (p.Tyr841Ter)
NM_001292063.2(OTOG):c.5472del (p.Ala1826fs) rs1029389440
NM_001393500.2(TOMT):c.100C>T (p.Arg34Ter)
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs) rs769260536
NM_016239.4(MYO15A):c.1185dup (p.Glu396fs) rs772536599
NM_016239.4(MYO15A):c.7124_7127del (p.Asp2375fs) rs780170125
NM_144672.4(OTOA):c.828del (p.Ser277fs) rs751447996
NM_182548.4(LHFPL5):c.250del (p.Pro83_Leu84insTer) rs779841884
NM_194248.3(OTOF):c.4885del (p.His1629fs) rs2148026336

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