ClinVar Miner

List of variants studied for Alstrom syndrome by Genetic Services Laboratory,University of Chicago

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Total variants: 5
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HGVS dbSNP
NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter) rs772624348
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter) rs1473611414
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs) rs797045228
NM_001378454.1(ALMS1):c.6568_6571del (p.Ser2190fs) rs1034630858
NM_015120.4(ALMS1):c.6436C>T (p.Arg2146Ter) rs770558150

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