ClinVar Miner

List of variants reported as benign for auditory system disease by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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NM_004004.6(GJB2):c.341A>G (p.Glu114Gly) rs2274083
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr) rs76838169
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val) rs142962579
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435
NM_017780.4(CHD7):c.3202-5T>C rs147994149
NM_017780.4(CHD7):c.694C>A (p.Pro232Thr) rs554647169
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820

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