ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive disease by Deafness Molecular Diagnostic Center, Chinese PLA General Hospital

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.1679A>G (p.Tyr560Cys) rs2135312491
NM_000260.4(MYO7A):c.6325A>C (p.Thr2109Pro) rs2135791193
NM_000441.2(SLC26A4):c.614G>T (p.Gly205Val) rs2129311931
NM_001042702.5(PJVK):c.880C>A (p.His294Asn) rs2154126353
NM_001199107.2(TBC1D24):c.370C>A (p.Gln124Lys) rs2141871461
NM_001199107.2(TBC1D24):c.523G>C (p.Ala175Pro) rs2141871916
NM_001384140.1(PCDH15):c.317A>T (p.Asp106Val) rs2135022416
NM_002700.3(POU4F3):c.770C>T (p.Ala257Val) rs765036368
NM_004004.6(GJB2):c.446C>A (p.Ala149Asp) rs2137307574
NM_012208.4(HARS2):c.1320G>T (p.Glu440Asp) rs1429114032
NM_012208.4(HARS2):c.322T>C (p.Tyr108His) rs2149852638
NM_016239.4(MYO15A):c.10350+6T>C rs2142431211
NM_016239.4(MYO15A):c.4195A>T (p.Ile1399Phe) rs2142300755
NM_016239.4(MYO15A):c.4461C>A (p.Asn1487Lys) rs201076604
NM_016239.4(MYO15A):c.5095T>G (p.Phe1699Val) rs2142328605
NM_016239.4(MYO15A):c.5683G>A (p.Glu1895Lys) rs2142341062
NM_016239.4(MYO15A):c.8474T>C (p.Leu2825Pro) rs2142384242
NM_016239.4(MYO15A):c.9482A>C (p.Gln3161Pro) rs2142399231
NM_016239.4(MYO15A):c.9820T>C (p.Tyr3274His) rs2142412720
NM_022124.6(CDH23):c.3371T>G (p.Leu1124Arg) rs2132800007
NM_022124.6(CDH23):c.3972G>C (p.Glu1324Asp) rs1839415432
NM_022124.6(CDH23):c.4457A>C (p.Asp1486Ala) rs2132844311
NM_022124.6(CDH23):c.4884T>A (p.Asn1628Lys) rs777745599
NM_022124.6(CDH23):c.5992G>A (p.Val1998Met) rs2132948074
NM_022124.6(CDH23):c.6368G>A (p.Gly2123Glu) rs1187008343
NM_022124.6(CDH23):c.6725T>A (p.Val2242Glu) rs772264240
NM_022124.6(CDH23):c.8560G>T (p.Gly2854Trp) rs2132989902
NM_022124.6(CDH23):c.8722G>C (p.Gly2908Arg) rs2132990819
NM_022124.6(CDH23):c.8782T>G (p.Phe2928Val) rs1352008121
NM_022124.6(CDH23):c.9078-7C>A rs749510793
NM_032119.4(ADGRV1):c.6514T>C (p.Ser2172Pro) rs2149615684
NM_138691.3(TMC1):c.1765A>G (p.Met589Val) rs2118298286
NM_138691.3(TMC1):c.642+4A>C rs2118056443
NM_144672.4(OTOA):c.774A>C (p.Leu258Phe) rs2141672622
NM_170682.4(P2RX2):c.1055T>G (p.Val352Gly) rs2138394748

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