ClinVar Miner

List of variants reported as likely benign for Autosomal recessive nonsyndromic hearing loss 4

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_012188.5(FOXI1):c.*924C>T rs45466695 0.05560
NM_002241.5(KCNJ10):c.811C>T (p.Arg271Cys) rs1130183 0.04770
NM_002241.5(KCNJ10):c.*1032G>A rs17375748 0.04538
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335 0.04399
NM_002241.5(KCNJ10):c.*413G>A rs79238495 0.02238
NM_002241.5(KCNJ10):c.*1430C>T rs114242410 0.02236
NM_000441.2(SLC26A4):c.2130C>T (p.Asp710=) rs17154347 0.02079
NM_012188.5(FOXI1):c.*331G>C rs72828668 0.01897
NM_002241.5(KCNJ10):c.*3250G>C rs74855057 0.01694
NM_002241.5(KCNJ10):c.*1498T>G rs75316108 0.01585
NM_000441.2(SLC26A4):c.*1302T>G rs112019874 0.01487
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353 0.01449
NM_002241.5(KCNJ10):c.*93C>T rs114052043 0.01296
NM_012188.5(FOXI1):c.*556A>G rs77823283 0.01117
NM_000441.2(SLC26A4):c.*11G>A rs113496951 0.00867
NM_002241.5(KCNJ10):c.*1368C>T rs73021683 0.00847
NM_000441.2(SLC26A4):c.1488C>T (p.Leu496=) rs77407094 0.00782
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) rs7811324 0.00669
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys) rs111033255 0.00183
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp) rs143002265 0.00139
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His) rs142723249 0.00092
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_000441.2(SLC26A4):c.1491T>C (p.Gly497=) rs150860491 0.00020
NM_000441.2(SLC26A4):c.225C>G (p.Leu75=) rs187447337 0.00016
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423 0.00010
NM_000441.2(SLC26A4):c.1796C>T (p.Ala599Val) rs201709908 0.00009
NM_000441.2(SLC26A4):c.1233C>T (p.Ala411=) rs766572560 0.00006
NM_000441.2(SLC26A4):c.2283A>G (p.Thr761=) rs202033028 0.00006
NM_002241.5(KCNJ10):c.1047C>T (p.Tyr349=) rs368537434 0.00006
NM_002241.5(KCNJ10):c.-43G>A rs372841245 0.00004
NM_000441.2(SLC26A4):c.1068C>T (p.Ile356=) rs886061885 0.00003
NM_000441.2(SLC26A4):c.601-5C>T rs546450643 0.00003
NM_000441.2(SLC26A4):c.2009T>C (p.Val670Ala) rs200712253 0.00002
NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=) rs727504993 0.00001
NM_000441.2(SLC26A4):c.2185C>T (p.Leu729=) rs758851434 0.00001
NM_000441.2(SLC26A4):c.678T>C (p.Ala226=) rs773602319 0.00001
NM_000441.2(SLC26A4):c.-66C>G rs17154282
NM_000441.2(SLC26A4):c.486C>T (p.Leu162=) rs370020280
NM_002241.5(KCNJ10):c.*1027C>T rs12067668
NM_002241.5(KCNJ10):c.*1813C>A rs78280261
NM_002241.5(KCNJ10):c.*89C>T rs115130978
NM_012188.5(FOXI1):c.*143A>T rs55762796

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