ClinVar Miner

List of variants reported as likely 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: 8
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_001114086.2(CLIC5):c.237A>T (p.Arg79Ser) rs41271277 0.00309
NM_018136.5(ASPM):c.9254T>C (p.Ile3085Thr) rs138138436 0.00155
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys) rs3747835 0.00113
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg) rs563858170 0.00011
NM_001382391.1(CSPP1):c.3296A>G (p.Glu1099Gly) rs201629827 0.00003
NM_001042517.2(DIAPH3):c.1439C>G (p.Thr480Arg) rs766502252 0.00002
NM_024824.5(ZC3H14):c.1424C>T (p.Ser475Phe) rs370546299

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