ClinVar Miner

List of variants reported as benign by ClinGen Hearing Loss Variant Curation Expert Panel

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_016239.4(MYO15A):c.5929T>C (p.Cys1977Arg) rs854777 0.79149
NM_005422.4(TECTA):c.1111A>G (p.Arg371Gly) rs612969 0.48670
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314 0.04612
NM_000441.2(SLC26A4):c.1708-18T>A rs55701254 0.02432
NM_016239.4(MYO15A):c.2238G>T (p.Arg746Ser) rs79760961 0.01604
NM_194248.3(OTOF):c.1723G>A (p.Val575Met) rs55676840 0.00781
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile) rs111033269 0.00379
NM_000441.2(SLC26A4):c.565G>T (p.Ala189Ser) rs35045430 0.00378
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972 0.00343
NM_206933.4(USH2A):c.15297+3A>G rs57754754 0.00327
NM_194248.3(OTOF):c.1580-6C>T rs114260271 0.00309
NM_005422.4(TECTA):c.1436C>T (p.Pro479Leu) rs35107075 0.00186
NM_000441.2(SLC26A4):c.416-7T>C rs111033387 0.00178
NM_004086.3(COCH):c.841G>A (p.Asp281Asn) rs28362775 0.00176
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr) rs145467740 0.00166
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val) rs145564837 0.00128
NM_004086.3(COCH):c.629+5C>T rs202109231 0.00110
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_004086.3(COCH):c.429A>G (p.Pro143=) rs147841606 0.00055
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=) rs116892396 0.00030
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys) rs201507590 0.00026
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481 0.00003
NM_022124.6(CDH23):c.429+4G>A rs397517328 0.00003
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579 0.00001
NM_000260.4(MYO7A):c.3503+12_3503+33del rs111033223

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