ClinVar Miner

List of variants studied for auditory system disorder by Myriad Genetics, Inc.

Included ClinVar conditions (325):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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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_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_001384474.1(LOXHD1):c.5410G>A (p.Glu1804Lys) rs200242497 0.00056
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294 0.00016
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397 0.00011
NM_004004.6(GJB2):c.587T>C (p.Ile196Thr) rs765172751 0.00004
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204 0.00003
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004004.6(GJB2):c.126G>T (p.Glu42Asp) rs535635403 0.00001
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309 0.00001
NM_004004.6(GJB2):c.557C>T (p.Thr186Met) rs753674300 0.00001
NM_001384474.1(LOXHD1):c.1190G>A (p.Trp397Ter)
NM_001384474.1(LOXHD1):c.1217T>A (p.Leu406Ter)
NM_001384474.1(LOXHD1):c.1357A>T (p.Lys453Ter)
NM_001384474.1(LOXHD1):c.1483A>T (p.Lys495Ter)
NM_001384474.1(LOXHD1):c.1798G>T (p.Glu600Ter)
NM_001384474.1(LOXHD1):c.1933C>T (p.Gln645Ter)
NM_001384474.1(LOXHD1):c.205G>T (p.Gly69Ter)
NM_001384474.1(LOXHD1):c.2395G>T (p.Glu799Ter)
NM_001384474.1(LOXHD1):c.3544A>T (p.Lys1182Ter)
NM_001384474.1(LOXHD1):c.3892C>T (p.Gln1298Ter)
NM_001384474.1(LOXHD1):c.4582A>T (p.Lys1528Ter)
NM_001384474.1(LOXHD1):c.464G>A (p.Trp155Ter)
NM_001384474.1(LOXHD1):c.4738A>T (p.Lys1580Ter)
NM_001384474.1(LOXHD1):c.5383_5384insCACACAC (p.Asp1795fs)
NM_001384474.1(LOXHD1):c.5413C>T (p.Gln1805Ter)
NM_001384474.1(LOXHD1):c.5458_5459del (p.Thr1820fs)
NM_001384474.1(LOXHD1):c.5527A>T (p.Lys1843Ter)
NM_001384474.1(LOXHD1):c.5619T>A (p.Cys1873Ter)
NM_001384474.1(LOXHD1):c.5668_5669del (p.Ala1890fs)
NM_001384474.1(LOXHD1):c.5988del (p.Gln1997fs)
NM_001384474.1(LOXHD1):c.5992_5998delinsCA (p.Thr1998fs)
NM_001384474.1(LOXHD1):c.6106_6107insA (p.Leu2036fs)
NM_001384474.1(LOXHD1):c.963T>A (p.Tyr321Ter)
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.475G>A (p.Asp159Asn) rs373684994
NM_004004.6(GJB2):c.585G>C (p.Met195Ile) rs570552952

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