ClinVar Miner

List of variants reported as uncertain significance for chromosomal disorder by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (201):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_005573.4(LMNB1):c.676C>T (p.Arg226Cys) rs142016804 0.00032
NM_019066.5(MAGEL2):c.2660G>A (p.Arg887Gln) rs199772480 0.00014
NM_016111.4(TELO2):c.2296G>A (p.Val766Met) rs371675497 0.00010
NM_030665.4(RAI1):c.1787G>A (p.Arg596Gln) rs200001615 0.00003
NM_022455.5(NSD1):c.1085G>A (p.Arg362Gln) rs769733603 0.00001
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_002487.3(NDN):c.533G>A (p.Arg178Lys) rs1555376130
NM_006940.6(SOX5):c.1050G>C (p.Gln350His) rs1566239985
NM_022455.5(NSD1):c.7352G>C (p.Arg2451Thr) rs200115665

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