ClinVar Miner

List of variants reported as uncertain significance for Alstrom syndrome by Fulgent Genetics,Fulgent Genetics

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Total variants: 11
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HGVS dbSNP
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val) rs201819880
NM_001378454.1(ALMS1):c.11411G>C (p.Arg3804Thr) rs201028172
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val) rs201728850
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp) rs200897773
NM_001378454.1(ALMS1):c.12037G>A (p.Gly4013Ser) rs541576664
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val) rs202111717
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929
NM_001378454.1(ALMS1):c.3568A>G (p.Thr1190Ala) rs772287164
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp) rs199615803
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His) rs201252809
NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val) rs202228570

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