ClinVar Miner

List of variants reported as uncertain significance for auditory system disease by Center for Human Genetics, Inc,Center for Human Genetics, Inc

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_001122659.3(EDNRB):c.973G>A (p.Val325Ile) rs201437745
NM_001354604.2(MITF):c.1072G>A (p.Val358Met) rs1271000541
NM_001354604.2(MITF):c.989G>A (p.Arg330His) rs763119975
NM_001354604.2(MITF):c.997G>A (p.Glu333Lys) rs147682682
NM_001844.5(COL2A1):c.3635G>C (p.Gly1212Ala) rs1555164786
NM_001854.4(COL11A1):c.781-17T>G rs1553239331
NM_006941.3(SOX10):c.334A>G (p.Met112Val) rs1555939439
NM_006941.4(SOX10):c.211T>G (p.Cys71Gly) rs200683397
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu) rs71640285
NM_017780.4(CHD7):c.3089A>C (p.Asn1030Thr) rs886041167
NM_017780.4(CHD7):c.323C>A (p.Pro108His) rs369818702
NM_017780.4(CHD7):c.712G>A (p.Val238Met) rs200898742
NM_017780.4(CHD7):c.7481C>T (p.Thr2494Ile) rs201514840
NM_181458.4(PAX3):c.227T>G (p.Leu76Arg) rs1553593925
NM_181458.4(PAX3):c.293C>T (p.Pro98Leu) rs1553593856
NM_181458.4(PAX3):c.730C>T (p.Pro244Ser) rs1553575183
NM_181458.4(PAX3):c.818G>A (p.Arg273Lys) rs1020175890

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