ClinVar Miner

List of variants studied for nonsyndromic genetic hearing loss by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

Included ClinVar conditions (246):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) rs200988634 0.00927
NM_001039141.3(TRIOBP):c.*3-4T>C rs145222008 0.00848
NM_145309.6(LRRC51):c.352G>C (p.Gly118Arg) rs149637884 0.00473
NM_144991.3(TSPEAR):c.44C>T (p.Ala15Val) rs150107590 0.00180
NM_194248.3(OTOF):c.367G>A (p.Gly123Ser) rs116314622 0.00134
NM_001039141.3(TRIOBP):c.2201C>T (p.Ser734Phe) rs199794705 0.00069
NM_016239.4(MYO15A):c.3622C>T (p.Arg1208Cys) rs201618718 0.00063
NM_004447.6(EPS8):c.197G>A (p.Arg66His) rs77383735 0.00051
NM_198699.1(KRTAP10-12):c.248C>T (p.Ser83Leu) rs200497262 0.00024
NM_001199799.2(ILDR1):c.866T>G (p.Leu289Trp) rs141450561 0.00023
NM_004568.6(SERPINB6):c.430+3G>A rs201080069 0.00021
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp) rs185873402 0.00016
NM_001384474.1(LOXHD1):c.683C>T (p.Pro228Leu) rs372408513 0.00012
NM_005422.4(TECTA):c.1621G>A (p.Val541Met) rs370652301 0.00006
NM_005219.5(DIAPH1):c.117+9C>T rs528279050 0.00003
NM_004230.4(S1PR2):c.985C>T (p.Arg329Cys) rs765378016 0.00002
NM_001039141.3(TRIOBP):c.7073C>T (p.Ser2358Leu) rs750498327 0.00001
NM_001146079.2(CLDN14):c.523C>T (p.Leu175Phe) rs760657763 0.00001
NM_001384474.1(LOXHD1):c.6526G>A (p.Val2176Met) rs745938801 0.00001
NM_005982.4(SIX1):c.561-13C>T rs1894946571 0.00001
NM_001031679.3(MSRB3):c.-51-1502G>A rs2136420609
NM_001039141.3(TRIOBP):c.1685C>G (p.Ser562Cys) rs747588173
NM_001039141.3(TRIOBP):c.5422A>G (p.Lys1808Glu) rs2145866277
NM_001145809.2(MYH14):c.6101A>C (p.His2034Pro) rs1215273187
NM_001384474.1(LOXHD1):c.3712G>A (p.Asp1238Asn) rs2144370861
NM_002906.4(RDX):c.-64-6del rs61003001
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_005797.4(MPZL2):c.319_320dup (p.Ile108fs) rs2134734280
NM_016239.4(MYO15A):c.3620T>C (p.Ile1207Thr) rs1365097671
NM_033641.4(COL4A6):c.1952-2785_1952-2784insAGA rs146680910
NM_133261.3(GIPC3):c.680G>A (p.Gly227Glu) rs756451615
NM_144991.3(TSPEAR):c.303+9641C>A rs374354141
NM_153700.2(STRC):c.3681+11G>A rs796781098

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.