ClinVar Miner

List of variants reported as likely benign for Hearing impairment

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys) rs139165033 0.00171
NM_005548.3(KARS1):c.717T>G (p.Phe239Leu) rs117188693 0.00075
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe) rs200816323 0.00061
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter) rs200045032 0.00054
NM_017780.4(CHD7):c.6353A>G (p.Asn2118Ser) rs199614124 0.00026
NM_000441.2(SLC26A4):c.225C>G (p.Leu75=) rs187447337 0.00016
NM_001371623.1(TCOF1):c.4070C>T (p.Ala1357Val) rs373129508 0.00009
NM_002700.3(POU4F3):c.214C>G (p.His72Asp) rs370712489 0.00009
NM_015404.4(WHRN):c.2307C>T (p.Gly769=) rs148971049 0.00006
NM_002160.4(TNC):c.6148C>T (p.Arg2050Cys) rs565954577 0.00002
NM_022124.6(CDH23):c.6546C>T (p.Ser2182=) rs749008207 0.00001
NM_001378457.1(DMXL2):c.2912T>C (p.Ile971Thr) rs929185965
NM_080680.3(COL11A2):c.4338+5G>A rs2150522213
NM_206933.4(USH2A):c.5919G>A (p.Val1973=) rs2102546199

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