ClinVar Miner

List of variants reported as not provided 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: 10
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HGVS dbSNP gnomAD frequency
NM_000211.5(ITGB2):c.1062= (p.His354=) rs235330 0.99991
NM_153700.2(STRC):c.179T>C (p.Phe60Ser) rs2729509 0.34286
NM_000211.5(ITGB2):c.1101C>A (p.Val367=) rs2230529 0.23426
NM_000211.5(ITGB2):c.819G>A (p.Gly273=) rs2230528 0.21986
NM_000211.5(ITGB2):c.24G>T (p.Leu8=) rs11088969 0.20978
NM_000211.5(ITGB2):c.500-11G>T rs55865320 0.16920
NM_000211.5(ITGB2):c.742-13G>A rs5030670 0.12263
NM_000211.5(ITGB2):c.58+12G>A rs2280965 0.09186
NM_001145809.2(MYH14):c.3468-3C>T rs78192108 0.01724
NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys) rs140901235 0.00119

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