ClinVar Miner

List of variants reported as pathogenic for Alstrom syndrome by Laboratory of Genetics in Ophthalmology, Institut Imagine

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs) rs797045228 0.00002
NM_001378454.1(ALMS1):c.10566_10567del (p.His3522fs) rs1163532771
NM_001378454.1(ALMS1):c.1092del (p.Asp365fs) rs1572914641
NM_001378454.1(ALMS1):c.10972C>T (p.Arg3658Ter) rs780438592
NM_001378454.1(ALMS1):c.11310_11313del (p.Asp3770fs) rs780252175
NM_001378454.1(ALMS1):c.12044del (p.Gly4015fs) rs1675682743
NM_001378454.1(ALMS1):c.1403_1404del (p.Val468fs) rs1558642193
NM_001378454.1(ALMS1):c.2038C>T (p.Arg680Ter) rs115444326
NM_001378454.1(ALMS1):c.2070dup (p.Gln691fs) rs1671856137
NM_001378454.1(ALMS1):c.2164_2165insT (p.Pro722fs) rs1671859372
NM_001378454.1(ALMS1):c.2273_2274del (p.Ala758fs) rs1671863469
NM_001378454.1(ALMS1):c.2467C>T (p.Gln823Ter) rs201853697
NM_001378454.1(ALMS1):c.2734_2737del (p.Glu912fs) rs1671876151
NM_001378454.1(ALMS1):c.2955_2956insTGAC (p.Gly986Ter) rs1553403585
NM_001378454.1(ALMS1):c.3039_3042del (p.Gln1014fs) rs1671883188
NM_001378454.1(ALMS1):c.3136C>T (p.Gln1046Ter) rs1671885850
NM_001378454.1(ALMS1):c.3522dup (p.Thr1175fs) rs1671897788
NM_001378454.1(ALMS1):c.5051_5057del (p.His1683_Leu1684insTer) rs1671941012
NM_001378454.1(ALMS1):c.5926C>T (p.Gln1976Ter) rs533606326
NM_001378454.1(ALMS1):c.8779C>T (p.Arg2927Ter) rs376244626
NM_001378454.1(ALMS1):c.8790_8791del (p.Phe2930fs) rs1672964092
NM_001378454.1(ALMS1):c.9538C>T (p.Arg3180Ter) rs563393715
NM_001378454.1(ALMS1):c.974_981del (p.Ile324_Ser325insTer) rs1671343808
NM_015120.4(ALMS1):c.11551del rs1675622361
NM_015120.4:c.(?_9911)_(11550_?)del

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