ClinVar Miner

List of variants reported as uncertain significance by INGEBI, INGEBI / CONICET

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg) rs200104362 0.00066
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949 0.00009
NM_004004.6(GJB2):c.24G>A (p.Thr8=) rs533231493 0.00007
NM_000091.5(COL4A3):c.4649T>G (p.Val1550Gly) rs200655479 0.00006
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747 0.00006
NM_004004.6(GJB2):c.385G>A (p.Glu129Lys) rs397516875 0.00004
NM_004004.6(GJB2):c.232G>T (p.Ala78Ser) rs1959060696
NM_004004.6(GJB2):c.29T>C (p.Leu10Pro) rs1959063711
NM_004004.6(GJB2):c.487A>C (p.Met163Leu) rs80338949
NM_004004.6(GJB2):c.569T>A (p.Val190Asp) rs1959056079
NM_004999.4(MYO6):c.1939T>C (p.Phe647Leu) rs752585373
NM_033380.3(COL4A5):c.1183C>T (p.Pro395Ser) rs2147796628
NM_033380.3(COL4A5):c.1759C>T (p.Pro587Ser) rs2147810509

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