ClinVar Miner

List of variants in gene ALMS1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His) rs201252809 0.00057
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val) rs201819880 0.00048
NM_001378454.1(ALMS1):c.5297A>G (p.Asn1766Ser) rs192863498 0.00019
NM_001378454.1(ALMS1):c.3860C>T (p.Ser1287Leu) rs375231416 0.00005
NM_001378454.1(ALMS1):c.2269C>T (p.Pro757Ser) rs200827630 0.00004
NM_001378454.1(ALMS1):c.4057C>A (p.Pro1353Thr) rs1005994594 0.00001
NM_001378454.1(ALMS1):c.7559A>G (p.Asn2520Ser) rs377085127 0.00001
NM_001378454.1(ALMS1):c.3661G>A (p.Val1221Ile) rs774268493
NM_001378454.1(ALMS1):c.6086C>A (p.Thr2029Asn) rs1671971138
NM_001378454.1(ALMS1):c.9574T>C (p.Phe3192Leu) rs1294949042
NM_001378454.1(ALMS1):c.9908-1G>A

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