ClinVar Miner

List of variants reported as benign for Klippel-Feil syndrome by Genome-Nilou Lab

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_032608.7(MYO18B):c.1641G>C (p.Trp547Cys) rs3859866 0.97472
NM_032608.7(MYO18B):c.1981T>C (p.Trp661Arg) rs5761170 0.96944
NM_032608.7(MYO18B):c.5748+11A>G rs2072007 0.83583
NM_032608.7(MYO18B):c.3357C>A (p.His1119Gln) rs5761268 0.64830
NM_032608.7(MYO18B):c.131G>A (p.Gly44Glu) rs133885 0.59120
NM_032608.7(MYO18B):c.2786+39G>A rs2331162 0.58745
NM_032608.7(MYO18B):c.199-3C>T rs133902 0.58447
NM_032608.7(MYO18B):c.2502T>C (p.Gly834=) rs738643 0.58283
NM_032608.7(MYO18B):c.7040A>G (p.Gln2347Arg) rs2236005 0.36742
NM_032608.7(MYO18B):c.3795G>A (p.Gly1265=) rs5996988 0.32734
NM_032608.7(MYO18B):c.9C>G (p.Ile3Met) rs61734946 0.13255
NM_032608.7(MYO18B):c.2439C>G (p.Leu813=) rs738642
NM_032608.7(MYO18B):c.530C>T (p.Pro177Leu) rs13058434
NM_032608.7(MYO18B):c.5749-11del rs10600754

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