ClinVar Miner

List of variants reported as uncertain significance for Nonsyndromic Hearing Loss, Mixed

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000601.6(HGF):c.*396A>T rs182057547 0.00320
NM_000601.6(HGF):c.137C>T (p.Ala46Val) rs150267054 0.00139
NM_004403.2(GSDME):c.-329G>A rs149380955 0.00115
NM_000601.5(HGF):c.-94G>T rs5745609 0.00111
NM_002241.4(KCNJ10):c.-183C>T rs374287142 0.00047
NM_002241.4(KCNJ10):c.-168C>A rs886045413 0.00022
NM_000601.6(HGF):c.471A>G (p.Pro157=) rs142045938 0.00015
NM_002241.5(KCNJ10):c.*52G>A rs148441646 0.00007
NM_000601.6(HGF):c.4T>C (p.Trp2Arg) rs375901177 0.00006
NM_001127453.2(GSDME):c.782G>A (p.Arg261Gln) rs550014047 0.00006
NM_002241.5(KCNJ10):c.*783A>G rs886045409 0.00006
NM_000601.6(HGF):c.*101A>G rs886062456 0.00003
NM_000601.6(HGF):c.1765G>A (p.Val589Ile) rs538415452 0.00003
NM_002241.5(KCNJ10):c.*2675_*2676del rs886045398 0.00003
NM_005219.5(DIAPH1):c.1287G>C (p.Gln429His) rs748159908 0.00003
NM_000601.6(HGF):c.-44A>G rs758149409 0.00002
NM_000601.6(HGF):c.1904A>G (p.Tyr635Cys) rs565056780 0.00001
NM_000601.6(HGF):c.438C>A (p.Gly146=) rs886062457 0.00001
NM_000601.6(HGF):c.88+9C>T rs199638850 0.00001
NM_001127453.2(GSDME):c.*607A>G rs886062221 0.00001
NM_001127453.2(GSDME):c.772C>T (p.Leu258=) rs886062226 0.00001
NM_002241.5(KCNJ10):c.*2530G>C rs886045400 0.00001
NM_000601.6(HGF):c.-40A>T rs28719812
NM_000601.6(HGF):c.1041-6C>T rs371103859
NM_000601.6(HGF):c.147C>G (p.Thr49=) rs886062458
NM_000601.6(HGF):c.1715A>G (p.Tyr572Cys) rs766769838
NM_000601.6(HGF):c.800C>T (p.Pro267Leu) rs771889279
NM_000601.6(HGF):c.921A>C (p.Gln307His) rs774508303
NM_001127453.2(GSDME):c.*224_*227dup rs886062224
NM_001127453.2(GSDME):c.119AGA[1] (p.Lys41del) rs748682263
NM_001127453.2(GSDME):c.1274ATG[1] (p.Asp426del) rs374353052
NM_002241.5(KCNJ10):c.*1970GT[21] rs56656397
NM_002241.5(KCNJ10):c.*1970GT[22] rs56656397
NM_002241.5(KCNJ10):c.*1970GT[24] rs56656397
NM_002241.5(KCNJ10):c.*1970GT[27] rs56656397
NM_002241.5(KCNJ10):c.*1970GT[28] rs56656397
NM_002241.5(KCNJ10):c.*2459T>G rs532869749
NM_005219.5(DIAPH1):c.*1703AG[6] rs142402193
NM_005219.5(DIAPH1):c.*1765_*1766dup rs539203577
NM_005219.5(DIAPH1):c.*932dup rs550954506
NM_005219.5(DIAPH1):c.1821TCC[9] (p.Pro619_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.402+12del rs555848272
NM_012188.5(FOXI1):c.965_967del (p.Phe322del) rs886060400

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