ClinVar Miner

List of variants reported as benign for autosomal recessive disease by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000211.5(ITGB2):c.994-47G>A rs2838725 0.24547
NM_000211.5(ITGB2):c.2248-127G>C rs235375 0.22047
NM_000211.5(ITGB2):c.329-6C>T rs9983887 0.00876
NM_000211.5(ITGB2):c.381C>T (p.Ile127=) rs483352812 0.00007
NM_000211.5(ITGB2):c.1878-45dup rs35293792
NM_000211.5(ITGB2):c.2247+57C>T rs33973568
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup) rs55889738

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