ClinVar Miner

List of variants studied for autosomal anomaly by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005573.4(LMNB1):c.676C>T (p.Arg226Cys) rs142016804 0.00032
NM_016111.4(TELO2):c.2296G>A (p.Val766Met) rs371675497 0.00010
NM_022455.5(NSD1):c.1085G>A (p.Arg362Gln) rs769733603 0.00001
NM_022455.5(NSD1):c.34T>C (p.Cys12Arg) rs143406017 0.00001
NM_006940.6(SOX5):c.1050G>C (p.Gln350His) rs1566239985
NM_016628.5(WAC):c.1746+1G>A rs1554791975
NM_022455.5(NSD1):c.7352G>C (p.Arg2451Thr) rs200115665

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