ClinVar Miner

List of variants in gene ALMS1 reported as likely benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 8
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NM_001378454.1(ALMS1):c.10464A>G (p.Val3488=) rs28730858
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564
NM_015120.4(ALMS1):c.10791G>C (p.Val3597=) rs45445398
NM_015120.4(ALMS1):c.36_38GGA[11] (p.Glu27_Glu29del) rs55889738
NM_015120.4(ALMS1):c.36_38GGA[16] (p.Glu28_Glu29dup) rs55889738
NM_015120.4(ALMS1):c.3735G>A (p.Lys1245=) rs140670994
NM_015120.4(ALMS1):c.3945A>C (p.Ser1315=) rs186449817
NM_015120.4(ALMS1):c.39_77= (p.Glu13_Glu26=) rs55889738

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