ClinVar Miner

List of variants reported as pathogenic by Precision Medicine Center, Zhengzhou University

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) rs199589947 0.00025
NM_000213.5(ITGB4):c.2524C>T (p.Gln842Ter) rs1191616106 0.00001
NM_000441.2(SLC26A4):c.439A>G (p.Met147Val) rs760413427 0.00001
NM_024876.4(COQ8B):c.893+2T>A rs759259550 0.00001
NM_000091.5(COL4A3):c.600_603dup (p.Phe202fs) rs2125924714
NM_000278.5(PAX2):c.76dup (p.Val26fs) rs75462234
NM_000307.5(POU3F4):c.80dup (p.Ser29fs)
NM_000307.5(POU3F4):c.985C>T (p.Arg329Ter)
NM_000441.2(SLC26A4):c.1264-12T>A rs2129316889
NM_000441.2(SLC26A4):c.1299dup (p.Ala434fs) rs2129316898
NM_000441.2(SLC26A4):c.1786C>T (p.Gln596Ter) rs1476190682
NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val) rs2129318281
NM_000441.2(SLC26A4):c.2000T>C (p.Phe667Ser) rs121908360
NM_000441.2(SLC26A4):c.2167C>G (p.His723Asp) rs1417146153
NM_000441.2(SLC26A4):c.317C>A (p.Ala106Asp) rs1562822565
NM_000441.2(SLC26A4):c.387del (p.Phe130fs) rs2129311265
NM_000441.2(SLC26A4):c.415+2T>C rs2129311282
NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro) rs1315422549
NM_000503.6(EYA1):c.1050+1G>T rs1816289467
NM_000503.6(EYA1):c.1140+1G>A rs1812855196
NM_000503.6(EYA1):c.1408G>T (p.Glu470Ter)
NM_000503.6(EYA1):c.1425del (p.Asp476fs) rs2128850973
NM_000503.6(EYA1):c.889C>T (p.Arg297Ter) rs1131691667
NM_001354604.2(MITF):c.1291dup (p.Cys431fs) rs2107552171
NM_006941.4(SOX10):c.198_262del (p.Lys67fs) rs2145777238
NM_006941.4(SOX10):c.529_556del (p.Arg177fs) rs2145768352
NM_015231.3(NUP160):c.4148_4149del (p.Glu1383fs) rs2135334498
NM_024426.6(WT1):c.1534C>T (p.Gln512Ter) rs2132897818
NM_024753.5(TTC21B):c.497del (p.Lys166fs) rs2105363277
NM_033380.3(COL4A5):c.1033-2A>G rs2147787964
NM_033380.3(COL4A5):c.1480G>T (p.Gly494Cys) rs1569493662
NM_033380.3(COL4A5):c.1871G>T (p.Gly624Val) rs104886142
NM_033380.3(COL4A5):c.2146G>A (p.Gly716Ser) rs104886161
NM_033380.3(COL4A5):c.322-1G>T rs104886375
NM_033380.3(COL4A5):c.3659G>A (p.Gly1220Asp) rs104886251
NM_033380.3(COL4A5):c.3670G>T (p.Glu1224Ter) rs1290001124
NM_033380.3(COL4A5):c.439-1G>A rs2147754967
NM_033380.3(COL4A5):c.4528G>C (p.Gly1510Arg) rs2147991725
NM_033380.3(COL4A5):c.4706+2T>C rs2147998807
NM_033380.3(COL4A5):c.4787G>A (p.Trp1596Ter) rs2148001657
NM_033380.3(COL4A5):c.4962G>A (p.Trp1654Ter) rs2068718016
NM_033380.3(COL4A5):c.4978_4979insAAAA (p.Val1660fs) rs2148002538
NM_033380.3(COL4A5):c.584G>A (p.Gly195Asp) rs104886061
NM_033380.3(COL4A5):c.687+1G>A rs104886440
NM_181458.4(PAX3):c.*175C>T rs780660984
NM_181458.4(PAX3):c.123del (p.Gly42fs) rs2106204266

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