ClinVar Miner

List of variants reported as benign for auditory system disease by Counsyl

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_001692.4(ATP6V1B1):c.*12G>A rs77794859
NM_001692.4(ATP6V1B1):c.1248+9A>G rs78140305
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys) rs114234874
NM_001692.4(ATP6V1B1):c.654C>T (p.Asp218=) rs116139984
NM_033056.4(PCDH15):c.157+59097T>C rs75443986
NM_144612.6(LOXHD1):c.2T>A (p.Met1Lys) rs36024592
NM_144612.6(LOXHD1):c.5214-3C>T rs528236655
NM_174878.3(CLRN1):c.6A>C (p.Pro2=) rs111033422

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