ClinVar Miner

List of variants reported as uncertain significance for Autosomal dominant nonsyndromic hearing loss 3A

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_004004.6(GJB2):c.*115A>C rs557953001 0.00054
NM_004004.6(GJB2):c.-22-6T>C rs141962118 0.00048
NM_004004.6(GJB2):c.*423C>T rs112457424 0.00029
NM_004004.6(GJB2):c.*598C>A rs550600399 0.00027
NM_004004.6(GJB2):c.*114T>C rs182085649 0.00011
NM_004004.6(GJB2):c.*800A>G rs886050027 0.00011
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949 0.00009
NM_004004.6(GJB2):c.-1G>A rs768338285 0.00006
NM_004004.6(GJB2):c.*236A>T rs922232025 0.00004
NM_004004.6(GJB2):c.*308G>A rs886090162 0.00004
NM_004004.6(GJB2):c.*1040A>G rs1370756376 0.00003
NM_004004.6(GJB2):c.*544T>C rs564755659 0.00003
NM_004004.6(GJB2):c.200A>G (p.His67Arg) rs527914983 0.00003
NM_004004.6(GJB2):c.287C>G (p.Ala96Gly) rs201839979 0.00003
NM_004004.6(GJB2):c.557C>T (p.Thr186Met) rs753674300 0.00002
NM_004004.6(GJB2):c.*412A>C rs547859391 0.00001
NM_004004.6(GJB2):c.*550A>G rs1959051090 0.00001
NM_004004.6(GJB2):c.*679T>C rs1006432105 0.00001
NM_004004.6(GJB2):c.*979A>G rs546826225 0.00001
NM_004004.6(GJB2):c.174A>G (p.Pro58=) rs778922005 0.00001
NM_004004.6(GJB2):c.196G>A (p.Asp66Asn) rs104894403 0.00001
NM_004004.6(GJB2):c.60T>G (p.Ile20Met) rs749693224 0.00001
NM_004004.6(GJB2):c.*1206T>G rs886050026
NM_004004.6(GJB2):c.*385G>C rs1959052059
NM_004004.6(GJB2):c.*482A>G rs886050028
NM_004004.6(GJB2):c.*52C>T rs1959054328
NM_004004.6(GJB2):c.-170C>G rs1006263046
NM_004004.6(GJB2):c.187G>T (p.Val63Leu) rs370696868

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