ClinVar Miner

List of variants reported as likely pathogenic by Laboratory of Human Genetics, Universidade de São Paulo

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=) rs200092283 0.00034
NM_001354604.2(MITF):c.1084C>T (p.Arg362Ter) rs1057517966
NM_001354604.2(MITF):c.649C>T (p.Arg217Ter) rs1553702006
NM_001376.5(DYNC1H1):c.9055G>A (p.Gly3019Ser) rs2152589131
NM_003403.5(YY1):c.1102T>C (p.Phe368Leu)
NM_006941.4(SOX10):c.1091del (p.Gln364fs) rs1555937398
NM_006941.4(SOX10):c.403A>C (p.Ser135Arg) rs1555939415
NM_006941.4(SOX10):c.430del (p.Leu144fs) rs1555938422
NM_006941.4(SOX10):c.44_62del (p.Val15fs) rs1555939564
NM_013275.6(ANKRD11):c.744G>C (p.Lys248Asn) rs2151783410
NM_014712.3(SETD1A):c.2761G>A (p.Asp921Asn) rs2143514019
NM_152743.4(BRAT1):c.430+5G>A rs2128399475
NM_181458.4(PAX3):c.124G>C (p.Gly42Arg) rs773327091
NM_181458.4(PAX3):c.142G>C (p.Gly48Arg) rs1419548558
NM_181458.4(PAX3):c.142G>T (p.Gly48Cys) rs1419548558
NM_181458.4(PAX3):c.149_160del (p.Pro50_Asn53del) rs1553593965
NM_181458.4(PAX3):c.464del (p.Ser155fs) rs1553592766
NM_181458.4(PAX3):c.727_739del (p.Tyr243fs) rs1553575179
NM_181458.4(PAX3):c.790C>T (p.Gln264Ter) rs1553575159

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