ClinVar Miner

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

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000601.6(HGF):c.1272-4A>G rs1800793 0.76662
NM_000601.6(HGF):c.333A>G (p.Glu111=) rs5745635 0.09752
NM_000601.6(HGF):c.910G>A (p.Glu304Lys) rs5745687 0.04328
NM_000601.6(HGF):c.*467A>G rs5745768 0.02498
NM_001127453.2(GSDME):c.*481_*485dup rs201456060
NM_001127453.2(GSDME):c.*505del rs77276759
NM_002241.5(KCNJ10):c.*1970GT[23] rs56656397
NM_004403.2(GSDME):c.-345delG rs138173985
NM_005219.5(DIAPH1):c.*124_*126del rs554410556
NM_005219.5(DIAPH1):c.*1622TCC[1] rs202157915
NM_012188.5(FOXI1):c.*938dup rs3839285

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