ClinVar Miner

List of variants reported as uncertain significance for Alstrom syndrome by Nilou-Genome Lab

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Total variants: 16
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HGVS dbSNP
NM_001378454.1(ALMS1):c.10832A>G (p.Gln3611Arg) rs45452795
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr) rs142278066
NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=) rs199603690
NM_001378454.1(ALMS1):c.12425A>G (p.Tyr4142Cys) rs775032572
NM_001378454.1(ALMS1):c.1400C>T (p.Thr467Ile) rs201990757
NM_001378454.1(ALMS1):c.1420C>A (p.His474Asn) rs200454461
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929
NM_001378454.1(ALMS1):c.280C>T (p.Pro94Ser) rs775431837
NM_001378454.1(ALMS1):c.3838G>A (p.Ala1280Thr) rs767729719
NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala) rs199649563
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp) rs199615803
NM_001378454.1(ALMS1):c.5724G>C (p.Gln1908His) rs779739318
NM_001378454.1(ALMS1):c.6076A>G (p.Lys2026Glu) rs191286546
NM_001378454.1(ALMS1):c.7276T>G (p.Cys2426Gly)
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His) rs201252809
NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val) rs202228570

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