ClinVar Miner

List of variants studied for auditory system disorder by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Included ClinVar conditions (325):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_016239.4(MYO15A):c.6728C>T (p.Thr2243Met) rs753611930 0.00010
NM_005219.5(DIAPH1):c.2082G>T (p.Leu694Phe) rs778995744 0.00001
NM_016239.4(MYO15A):c.8005dup (p.Thr2669fs) rs1221876133 0.00001
NM_001080476.3(GRXCR1):c.385-2A>G rs771844359
NM_001146079.2(CLDN14):c.191G>A (p.Cys64Tyr) rs1568839335
NM_001378609.3(OTOGL):c.4536_4537del (p.Cys1512fs) rs763898293
NM_005422.4(TECTA):c.458C>T (p.Thr153Met) rs1555121799
NM_016239.4(MYO15A):c.6638G>A (p.Trp2213Ter) rs1567649945
NM_153676.4(USH1C):c.2380+1G>C rs1060499916
NM_153676.4(USH1C):c.445G>A (p.Glu149Lys) rs1565058763

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