ClinVar Miner

List of variants reported by Molecular Medicine Center, Medical University of Sofia

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001002295.2(GATA3):c.1262C>T (p.Thr421Met) rs374919553 0.00002
NM_000030.3(AGXT):c.534C>G (p.Cys178Trp) rs1400552764
NM_000092.5(COL4A4):c.719G>A (p.Gly240Glu) rs1559643753
NM_001042492.3(NF1):c.7205C>G (p.Ser2402Ter) rs2151572511
NM_002968.3(SALL1):c.1365_1366insGCAG (p.Lys456fs) rs1962410902
NM_021871.4(FGA):c.215G>A (p.Gly72Glu) rs1730803914
NM_024426.6(WT1):c.1338C>A (p.His446Gln) rs121907907
NM_033380.3(COL4A5):c.1147G>C (p.Gly383Arg) rs1569492161
NM_033380.3(COL4A5):c.1967G>A (p.Gly656Asp) rs2066625376
NM_033380.3(COL4A5):c.2509+2T>G rs1569497030
NM_153240.5(NPHP3):c.3608del (p.Ala1203fs) rs1060499938

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