ClinVar Miner

List of variants reported as likely pathogenic for auditory system disease by Division of Human Genetics,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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HGVS dbSNP
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000503.6(EYA1):c.1615G>T (p.Glu539Ter) rs1060499603
NM_001277269.1(OTOG):c.2500C>T (p.Gln834Ter) rs554847663
NM_004086.3(COCH):c.1625G>T (p.Cys542Phe) rs121908932
NM_005982.4(SIX1):c.460A>T (p.Lys154Ter) rs1060499595
NM_014332.3(SMPX):c.133-1G>A rs1060499590
NM_016239.4(MYO15A):c.5055dup (p.Asn1686fs) rs1555543836
NM_144612.6(LOXHD1):c.4480C>T rs201587138
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547
NM_153700.2(STRC):c.4701+1G>A rs199839039
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051

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