ClinVar Miner

List of variants in gene ALMS1 reported as pathogenic by GeneDx

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Total variants: 14
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HGVS dbSNP
NM_001378454.1(ALMS1):c.2617C>T (p.Gln873Ter) rs1572932845
NM_001378454.1(ALMS1):c.3011_3012CA[1] (p.Ser1004_His1005insTer) rs1572933385
NM_001378454.1(ALMS1):c.5002del (p.Arg1668fs) rs1572936092
NM_015120.4(ALMS1):c.10825C>T (p.Arg3609Ter) rs1192396248
NM_015120.4(ALMS1):c.11207C>A (p.Ser3736Ter) rs367877017
NM_015120.4(ALMS1):c.11311_11312del (p.Thr3770_Asp3771insTer) rs1553418578
NM_015120.4(ALMS1):c.11395_11396AG[1] (p.Arg3799fs) rs1553418598
NM_015120.4(ALMS1):c.11449C>T (p.Gln3817Ter) rs940576720
NM_015120.4(ALMS1):c.12208C>T (p.Gln4070Ter) rs1558712413
NM_015120.4(ALMS1):c.2137_2138CT[2] (p.Ser714fs) rs387906313
NM_015120.4(ALMS1):c.3902C>A (p.Ser1301Ter) rs769219669
NM_015120.4(ALMS1):c.5145T>G (p.Tyr1715Ter) rs772136379
NM_015120.4(ALMS1):c.800G>A (p.Trp267Ter) rs1558639105
NM_015120.4(ALMS1):c.928C>T (p.Gln310Ter) rs1558639213

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