ClinVar Miner

List of variants reported as likely benign for Nonsyndromic Hearing Loss, Recessive

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.*349A>G rs1867978 0.77194
NM_002778.4(PSAP):c.*891G>A rs7869 0.34207
NM_001384474.1(LOXHD1):c.6183-11del rs143514947 0.23567
NM_002778.4(PSAP):c.1350+5G>A rs11000016 0.16762
NM_003690.5(PRKRA):c.-24G>A rs62176113 0.15636
NM_022124.6(CDH23):c.*204A>G rs2290022 0.13799
NM_014042.3(ANAPC15):c.216T>C (p.Asp72=) rs17161980 0.11187
NM_022124.6(CDH23):c.9319+11G>A rs11000013 0.10868
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021 0.08719
NM_017433.4(MYO3A):c.-215A>G rs7073084 0.08165
NM_022124.6(CDH23):c.*510G>A rs1054635 0.07812
NM_001393500.2(TOMT):c.*379C>T rs73543612 0.07171
NM_001145308.5(LRTOMT):c.69G>C (p.Leu23=) rs12272086 0.07159
NM_003690.5(PRKRA):c.1A>C (p.Met1Leu) rs9406386 0.04659
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140 0.04021
NM_000260.3(MYO7A):c.*560C>T rs35776264 0.01078
NM_000260.3(MYO7A):c.*546C>T rs115812166 0.00459
NM_003690.5(PRKRA):c.32C>T (p.Pro11Leu) rs62176112 0.00410
NM_005422.4(TECTA):c.-1-12T>C rs145916279 0.00352
NM_001256317.3(TMPRSS3):c.*578del rs34908991
NM_001379180.1(ESRRB):c.*3025dup rs144990801
NM_002906.4(RDX):c.*1260GT[12] rs61030269
NM_002906.4(RDX):c.*523_*524del rs144848373
NM_002906.4(RDX):c.*923del rs35381725
NM_002906.4(RDX):c.-64-6del rs61003001
NM_003690.5(PRKRA):c.22_23del (p.Ala8fs) rs141354030
NM_004999.4(MYO6):c.*1139del rs3834289
NM_004999.4(MYO6):c.*3301del rs199966180
NM_004999.4(MYO6):c.*4113dup rs138193115
NM_004999.4(MYO6):c.*4423AATT[1] rs10547766
NM_004999.4(MYO6):c.*4495AAAT[4] rs574841371
NM_004999.4(MYO6):c.1078+19dup rs144408691
NM_004999.4(MYO6):c.1546+7_1546+8del rs3831003
NM_013296.5(GPSM2):c.1569TTC[1] (p.Ser525del) rs35029887
NM_015404.4(WHRN):c.-608_-601del rs150944893
NM_022124.6(CDH23):c.-45AGGCG[2] rs71012280
NM_022124.6(CDH23):c.-45AGGCG[4] rs71012280
NM_024022.2(TMPRSS3):c.617-3_617-2dup rs34966432
NM_138691.3(TMC1):c.238GAA[3] (p.Glu83del) rs376040866
NM_182548.4(LHFPL5):c.*672dup rs147136847
NM_182548.4(LHFPL5):c.*904del rs796097780
NM_182548.4(LHFPL5):c.-298AG[1] rs67478220
NM_194248.3(OTOF):c.*898dup rs111964688

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