ClinVar Miner

List of variants reported as uncertain significance 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: 20
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NM_000268.4(NF2):c.1540A>G (p.Met514Val) rs201527155
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.260C>T (p.Pro87Leu) rs1555341946
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr) rs111033225
NM_004004.6(GJB2):c.475G>A (p.Asp159Asn) rs373684994
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg) rs200104362
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr) rs201004645
NM_004004.6(GJB2):c.527A>G (p.Asn176Ser) rs1555341840
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.584T>C (p.Met195Thr) rs1378679640
NM_004004.6(GJB2):c.585G>A (p.Met195Ile) rs570552952
NM_004004.6(GJB2):c.60T>G (p.Ile20Met) rs749693224
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) rs375599392
NM_017780.4(CHD7):c.1006A>G (p.Asn336Asp) rs886040979
NM_017780.4(CHD7):c.1812C>A (p.Asn604Lys) rs764607908
NM_017780.4(CHD7):c.295G>C (p.Ala99Pro) rs779024959
NM_017780.4(CHD7):c.4849G>A (p.Gly1617Ser) rs886040993
NM_017780.4(CHD7):c.7952A>G (p.Asn2651Ser) rs780161032
NM_017780.4(CHD7):c.986A>G (p.Asn329Ser) rs777040556

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