ClinVar Miner

List of variants reported as likely pathogenic for auditory system disease by Invitae

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 115
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HGVS dbSNP
NC_000002.11:g.(?_73651548)_(73653691_?)dup
NC_000002.11:g.(?_73678717_73689164del
NC_000002.11:g.(?_73679790_73710618del
NC_000002.11:g.(?_73682279)_(73682432_?)dup
NC_000002.11:g.(?_73716751)_(73762086_?)dup
NC_000002.11:g.(?_73760681_73762027del
NC_000002.11:g.(?_73760681_73762028del
NC_000004.11:g.(?_124011724)_(124177345_?)del
NC_000005.10:g.(?_119514971)_(119542004_?)del
NC_000005.10:g.(?_150396282)_(150399070_?)del
NC_000005.10:g.(?_150399002)_(150399068_?)del
NC_000022.10:g.(?_30035073)_(30035207_?)del
NC_000022.10:g.(?_30064316)_(30067943_?)del
NC_000022.10:g.(?_30077422)_(30077596_?)dup
NC_000022.11:g.(?_29639090)_(29639212_?)del
NC_000022.11:g.(?_29668333)_(29671948_?)del
NC_000022.11:g.(?_29671816)_(29671958_?)del
NM_000268.4(NF2):c.114+1G>A
NM_000268.4(NF2):c.363+2T>C
NM_000268.4(NF2):c.675+1del
NM_000356.4(TCOF1):c.378+1G>A rs1581064385
NM_000414.4(HSD17B4):c.1A>C (p.Met1Leu)
NM_000414.4(HSD17B4):c.280+2T>C
NM_000414.4(HSD17B4):c.739+1G>A
NM_000414.4(HSD17B4):c.868+1del rs749532705
NM_000503.6(EYA1):c.1739T>G (p.Leu580Arg) rs1585717154
NM_001110556.2(FLNA):c.1065+1G>T
NM_001110556.2(FLNA):c.1066-1G>A
NM_001110556.2(FLNA):c.2827-2A>C
NM_001110556.2(FLNA):c.4142+1G>A rs1603360906
NM_001110556.2(FLNA):c.4143-1G>T rs1557177485
NM_001110556.2(FLNA):c.4596_4598+5del rs1557177279
NM_001110556.2(FLNA):c.5686+1G>C rs1557176315
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) rs137853317
NM_001110556.2(FLNA):c.622+1G>A
NM_001110556.2(FLNA):c.6503-2A>C rs112363874
NM_001110556.2(FLNA):c.7768CTG[1] (p.Leu2591del)
NM_001130823.3(DNMT1):c.1520C>T (p.Pro507Leu) rs1599366542
NM_001130823.3(DNMT1):c.1619A>C (p.Tyr540Ser)
NM_001145661.2(GATA2):c.1021_1024dup (p.Ala342fs) rs869320770
NM_001145661.2(GATA2):c.1081C>T (p.Arg361Cys) rs1426175410
NM_001199107.2(TBC1D24):c.115G>C (p.Ala39Pro)
NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val) rs564477999
NM_001199107.2(TBC1D24):c.229ATCGTGGGCAAG[1] (p.77IVGK[1]) rs761918906
NM_001199107.2(TBC1D24):c.321T>A (p.Asn107Lys) rs1057524192
NM_001199107.2(TBC1D24):c.442G>A (p.Glu148Lys) rs763626059
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) rs398122965
NM_001199107.2(TBC1D24):c.983+2T>C rs1596969717
NM_001354604.2(MITF):c.956-2A>G
NM_001371623.1(TCOF1):c.109-3del
NM_001371623.1(TCOF1):c.89T>G (p.Val30Gly)
NM_001378454.1(ALMS1):c.11669-2A>G
NM_001378454.1(ALMS1):c.12115-2A>T
NM_001378454.1(ALMS1):c.12299-2A>G
NM_001378454.1(ALMS1):c.1432+2T>A
NM_001378454.1(ALMS1):c.450+2T>C
NM_001378454.1(ALMS1):c.647-2A>T
NM_001378454.1(ALMS1):c.7674+1G>T
NM_001378454.1(ALMS1):c.9782-1269_9859del
NM_001378454.1(ALMS1):c.9782-1G>A
NM_002241.5(KCNJ10):c.193C>T (p.Arg65Cys) rs387906834
NM_002241.5(KCNJ10):c.512G>A (p.Arg171Gln) rs200320916
NM_002241.5(KCNJ10):c.889C>T (p.Arg297Cys) rs137853071
NM_003611.3(OFD1):c.2261-6C>G rs769923969
NM_003611.3(OFD1):c.312+1G>T rs1569102786
NM_005219.5(DIAPH1):c.145-1G>A
NM_005236.2(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005236.2(ERCC4):c.2065C>A (p.Arg689Ser) rs149364215
NM_005236.3(ERCC4):c.1102+1G>T
NM_005236.3(ERCC4):c.580_584+1del
NM_005360.5(MAF):c.905C>T (p.Ala302Val) rs1481963503
NM_015120.4(ALMS1):c.10216+1G>A rs374681570
NM_015120.4(ALMS1):c.1240+2T>C rs916056435
NM_015120.4(ALMS1):c.1432+2_1432+15del rs1203193062
NM_015120.4(ALMS1):c.646+2T>C rs1572911143
NM_015631.6(TCTN3):c.256+2_256+7del
NM_016418.5(NF2):c.1122+1G>A rs1569304774
NM_016418.5(NF2):c.1446+1G>A rs1601652425
NM_016418.5(NF2):c.516+2T>G rs1569293488
NM_016418.5(NF2):c.599+1G>T rs1555993352
NM_016418.5(NF2):c.675+1G>A rs1555994854
NM_017780.4(CHD7):c.2613+1G>T
NM_017780.4(CHD7):c.2613+1del rs1060503189
NM_017780.4(CHD7):c.2836-2A>T rs878855031
NM_017780.4(CHD7):c.3094_3114del (p.Glu1032_Trp1038del)
NM_017780.4(CHD7):c.3201+1G>A
NM_017780.4(CHD7):c.3226A>G (p.Lys1076Glu)
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro) rs864309609
NM_017780.4(CHD7):c.4247C>G (p.Thr1416Arg) rs770166812
NM_017780.4(CHD7):c.5211-2_5227del
NM_017780.4(CHD7):c.5389G>A (p.Gly1797Arg) rs1563656016
NM_017780.4(CHD7):c.5894+5G>A
NM_017780.4(CHD7):c.6104-2A>T
NM_017780.4(CHD7):c.6193C>G (p.Arg2065Gly) rs1064794250
NM_017780.4(CHD7):c.6273G>T (p.Trp2091Cys)
NM_017780.4(CHD7):c.7763A>G (p.Asn2588Ser) rs1554606033
NM_017780.4(CHD7):c.7971+1G>T rs1554606274
NM_018344.6(SLC29A3):c.1330G>T (p.Glu444Ter) rs267607056
NM_018344.6(SLC29A3):c.611-1G>T rs139857136
NM_018344.6(SLC29A3):c.971C>T (p.Pro324Leu)
NM_018344.6(SLC29A3):c.984del (p.Asn329fs) rs1415833135
NM_023073.3(CPLANE1):c.570+2T>A rs1321423759
NM_023073.3(CPLANE1):c.677+1G>C rs1414913269
NM_023073.3(CPLANE1):c.7588+1G>A rs1561458987
NM_032638.5(GATA2):c.1024dup (p.Ala342fs)
NM_032638.5(GATA2):c.872-1G>C
NM_032861.4(SERAC1):c.1493G>C (p.Ser498Thr) rs201941476
NM_145207.3(SPATA5):c.1147+1_1147+5del
NM_145207.3(SPATA5):c.1459-1G>A
NM_145207.3(SPATA5):c.1715-1G>C rs1263369560
NM_145207.3(SPATA5):c.1869+1G>T
NM_145207.3(SPATA5):c.1912A>G (p.Lys638Glu) rs560475969
NM_145207.3(SPATA5):c.2079+1dup rs1560894236
NM_145207.3(SPATA5):c.446+1G>A rs1166181741
NM_145207.3(SPATA5):c.447-2A>G

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