ClinVar Miner

List of variants studied for multiple congenital anomalies/dysmorphic syndrome by Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital

Included ClinVar conditions (856):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001354604.2(MITF):c.1070C>A (p.Ser357Tyr) rs2107537096
NM_001354604.2(MITF):c.644dup (p.His215fs) rs2107483975
NM_001354604.2(MITF):c.956-1G>A rs1057519327
NM_006941.4(SOX10):c.12_13delinsAT (p.Gln5Ter) rs2145777835
NM_006941.4(SOX10):c.448A>G (p.Lys150Glu) rs1932280017
NM_006941.4(SOX10):c.44_62del (p.Val15fs) rs1555939564
NM_181458.4(PAX3):c.281G>T (p.Gly94Val) rs2106203654
NM_181458.4(PAX3):c.586+2T>A rs2106196576
NM_181458.4(PAX3):c.667C>T (p.Arg223Ter) rs772241382
Single allele

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