ClinVar Miner

List of variants reported as likely pathogenic 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: 52
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HGVS dbSNP
NM_000268.4(NF2):c.1507dup (p.Asp503fs) rs1556002536
NM_000268.4(NF2):c.354CTT[1] (p.Phe119del) rs1555987732
NM_000268.4(NF2):c.465del (p.Ser156fs) rs1555992948
NM_000268.4(NF2):c.560_561del (p.Arg187fs) rs1555993301
NM_000268.4(NF2):c.58_61delinsGT (p.Lys20fs) rs1555978369
NM_001122659.3(EDNRB):c.550T>C (p.Ser184Pro) rs1555290659
NM_001301130.2(POLR2F):c.293+6619del rs1555937390
NM_001301130.2(POLR2F):c.293+6634dup rs1555937395
NM_001301130.2(POLR2F):c.293+6792dup rs1555937463
NM_001301130.2(POLR2F):c.294-2507del rs1064796049
NM_001301130.2(POLR2F):c.294-2642_294-2623dup rs1555939476
NM_001301130.2(POLR2F):c.294-2669_294-2667delinsCC rs1555939460
NM_001301130.2(POLR2F):c.294-2747dup rs1555939421
NM_001354604.2(MITF):c.1031+4A>C rs1553704850
NM_001354604.2(MITF):c.1084C>T (p.Arg362Ter) rs1057517966
NM_001354604.2(MITF):c.730_731delinsCC (p.Leu244Pro) rs1553702406
NM_001354604.2(MITF):c.953T>C (p.Leu318Pro) rs1553704097
NM_001844.4(COL2A1):c.971delG (p.Gly324Valfs) rs1555168309
NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter) rs1246771678
NM_001844.5(COL2A1):c.2049+1G>A rs1555166658
NM_001844.5(COL2A1):c.2355+2del rs1555166295
NM_006941.3(SOX10):c.301A>T (p.Lys101Ter) rs1555939459
NM_006941.3(SOX10):c.364C>G (p.Leu122Val) rs1555939426
NM_006941.3(SOX10):c.426G>C (p.Trp142Cys) rs1555939403
NM_006941.3(SOX10):c.452G>C (p.Arg151Pro) rs1373797370
NM_006941.3(SOX10):c.586G>T (p.Glu196Ter) rs763210407
NM_016418.5(NF2):c.1737+2T>A rs1556003801
NM_017780.4(CHD7):c.1597_1598insT (p.His533fs) rs1554581814
NM_017780.4(CHD7):c.3379-2A>C rs864622523
NM_017780.4(CHD7):c.5607+1G>A rs1554603672
NM_017780.4(CHD7):c.7648G>T (p.Glu2550Ter) rs1554605973
NM_017780.4(CHD7):c.8087del (p.Pro2696fs) rs1554606910
NM_017780.4(CHD7):c.862C>T (p.Gln288Ter) rs1554581399
NM_181458.4(PAX3):c.1021C>T (p.Gln341Ter) rs1553572740
NM_181458.4(PAX3):c.124G>C (p.Gly42Arg) rs773327091
NM_181458.4(PAX3):c.1277C>A (p.Ser426Ter) rs369886550
NM_181458.4(PAX3):c.136dup (p.Ile46fs) rs1553594009
NM_181458.4(PAX3):c.1372_1375dup (p.Ser459fs) rs1553568831
NM_181458.4(PAX3):c.210C>A (p.Cys70Ter) rs1356246522
NM_181458.4(PAX3):c.232G>T (p.Val78Leu) rs1553593917
NM_181458.4(PAX3):c.246C>A (p.Cys82Ter) rs777297575
NM_181458.4(PAX3):c.246C>G (p.Cys82Trp) rs777297575
NM_181458.4(PAX3):c.269A>G (p.Tyr90Cys) rs1553593874
NM_181458.4(PAX3):c.452-9C>A rs1379006499
NM_181458.4(PAX3):c.482_484delinsTA (p.Lys161fs) rs1553592757
NM_181458.4(PAX3):c.524dup (p.Glu176fs) rs1553592713
NM_181458.4(PAX3):c.530_531insCT (p.Ala177_Glu178insTer) rs1553592703
NM_181458.4(PAX3):c.692T>C (p.Leu231Pro) rs1553575191
NM_181458.4(PAX3):c.791A>C (p.Gln264Pro) rs1553575157
NM_181458.4(PAX3):c.86-2A>G rs1553594069
NM_181458.4(PAX3):c.921del (p.Ser308fs) rs1553572946
NM_207034.3(EDN3):c.334C>A (p.His112Asn) rs977075341

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