ClinVar Miner

List of variants studied for short rib dysplasia by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_016008.4(DYNC2LI1):c.16C>T (p.Leu6Phe) rs146698690 0.00271
NM_001382391.1(CSPP1):c.255_256del (p.His85fs) rs1554562278
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) rs765513105

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