ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive disease by WangQJ Lab, Chinese People's Liberation Army General Hospital

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser) rs148718874 0.00066
NM_001292063.2(OTOG):c.516C>T (p.Pro172=) rs149868055 0.00055
NM_001145026.2(PTPRQ):c.6526G>A (p.Ala2176Thr) rs201371823 0.00021
NM_001145026.2(PTPRQ):c.6603-3T>G rs1195593420 0.00008
NM_016239.4(MYO15A):c.2017G>A (p.Gly673Arg) rs1462012083 0.00002
NM_178335.3(CCDC50):c.679C>T (p.Arg227Trp) rs1032719052 0.00002
NM_000260.4(MYO7A):c.1946G>A (p.Arg649Gln) rs1308203959 0.00001
NM_001292063.2(OTOG):c.7722C>T (p.Pro2574=) rs1260956852 0.00001
NM_022124.6(CDH23):c.8012G>A (p.Gly2671Asp) rs779222449 0.00001
NM_138691.3(TMC1):c.596A>G (p.Asn199Ser) rs756960425 0.00001
NM_000260.4(MYO7A):c.1679A>G (p.Tyr560Cys) rs2135312491
NM_000260.4(MYO7A):c.4138T>C (p.Tyr1380His) rs2135577456
NM_000260.4(MYO7A):c.5043G>A (p.Val1681=) rs1295009131
NM_000260.4(MYO7A):c.6545G>C (p.Cys2182Ser) rs1382157968
NM_001145026.2(PTPRQ):c.3873+5G>T rs1896196662
NM_001145026.2(PTPRQ):c.6113C>T (p.Pro2038Leu) rs1900298602
NM_001145026.2(PTPRQ):c.6602G>A (p.Ser2201Asn) rs2121285243
NM_001378609.3(OTOGL):c.6949T>C (p.Cys2317Arg) rs1197672891
NM_001384474.1(LOXHD1):c.759+5G>A rs2144311627
NM_001692.4(ATP6V1B1):c.1331_1348del (p.Leu444_Leu449del) rs1219560039
NM_012208.4(HARS2):c.1403G>C (p.Gly468Ala) rs748402163
NM_016239.4(MYO15A):c.10183C>T (p.Leu3395Phe) rs952306971
NM_016239.4(MYO15A):c.3435del (p.Lys1146fs) rs2142262660
NM_016239.4(MYO15A):c.4190C>A (p.Ser1397Tyr) rs1003360290
NM_016239.4(MYO15A):c.8681T>C (p.Ile2894Thr) rs2142386490
NM_016239.4(MYO15A):c.9888_9898delinsTCGGGGGG (p.Leu3297_Gln3300delinsArgGlyGlu) rs2142413074
NM_032119.4(ADGRV1):c.15492C>A (p.Ser5164Arg) rs771447233
NM_032119.4(ADGRV1):c.6514T>C (p.Ser2172Pro) rs2149615684
NM_032119.4(ADGRV1):c.7255C>T (p.Pro2419Ser) rs2149639504
NM_138691.3(TMC1):c.1551A>C (p.Glu517Asp) rs2118194338
NM_144672.4(OTOA):c.1348A>G (p.Met450Val) rs2141697579
NM_153700.2(STRC):c.4765G>T (p.Val1589Phe) rs147963245
NM_170682.4(P2RX2):c.459_554+1dup rs2138365971
NM_194248.3(OTOF):c.2406+2dup rs2148051770
NM_194248.3(OTOF):c.2676G>A (p.Lys892=) rs2148050346
NM_194248.3(OTOF):c.3260A>T (p.Asp1087Val) rs2148044809
NM_194248.3(OTOF):c.5108G>T (p.Arg1703Leu) rs529721333
NM_194248.3(OTOF):c.5109_5110insTTC (p.Arg1703_Leu1704insPhe) rs2148023735
NM_206933.4(USH2A):c.11279G>C (p.Ser3760Thr) rs773373939
NM_206933.4(USH2A):c.13876C>G (p.Gln4626Glu) rs1657805631

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