ClinVar Miner

List of variants studied for Sheldon-hall syndrome by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002470.4(MYH3):c.4129G>C (p.Glu1377Gln) rs1567553702
NM_002470.4(MYH3):c.4826G>A (p.Arg1609Lys) rs1555525264
NM_213674.1(TPM2):c.826C>G (p.Gln276Glu) rs376668943

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