ClinVar Miner

List of variants reported as pathogenic for Alstrom syndrome by Counsyl

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Total variants: 17
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HGVS dbSNP
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) rs387906312
NM_001378454.1(ALMS1):c.10787_10788del (p.Val3596fs) rs1218465638
NM_001378454.1(ALMS1):c.10828_10829del (p.Arg3610fs) rs755616266
NM_001378454.1(ALMS1):c.11204C>A (p.Ser3735Ter) rs367877017
NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs) rs747272625
NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs) rs1476205467
NM_001378454.1(ALMS1):c.11648_11649insGTTA (p.Asn3884fs) rs760264695
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs) rs797045228
NM_001378454.1(ALMS1):c.4914_4917del (p.Asn1638fs) rs779366889
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter) rs772136379
NM_001378454.1(ALMS1):c.5627dup (p.Gly1877fs) rs1553404109
NM_001378454.1(ALMS1):c.6568_6571del (p.Ser2190fs) rs1034630858
NM_001378454.1(ALMS1):c.6587del (p.Lys2196fs) rs1553404283
NM_001378454.1(ALMS1):c.7372_7373del (p.Thr2457_Asp2458insTer) rs1225343345
NM_001378454.1(ALMS1):c.8391dup (p.Leu2798fs) rs1553409715
NM_015120.4(ALMS1):c.11385del (p.Phe3795fs) rs768759374
NM_015120.4(ALMS1):c.6436C>T (p.Arg2146Ter) rs770558150

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