ClinVar Miner

List of variants reported as benign for Meckel syndrome, type 8 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_024809.5(TCTN2):c.1128T>C (p.Pro376=) rs7966867 0.54127
NM_024809.5(TCTN2):c.891+7G>A rs7313032 0.42667
NM_024809.5(TCTN2):c.*468C>T rs7398298 0.36606
NM_024809.5(TCTN2):c.1393+7C>T rs7298440 0.36136
NM_024809.5(TCTN2):c.*155G>A rs12811354 0.31018
NM_024809.5(TCTN2):c.*412T>C rs112525270 0.05727
NM_024809.5(TCTN2):c.873A>G (p.Ala291=) rs73418153 0.05717
NM_024809.5(TCTN2):c.225C>T (p.Asn75=) rs73416301 0.05714
NM_024809.5(TCTN2):c.83-4C>T rs73416299 0.05712
NM_024809.5(TCTN2):c.*87C>T rs113292231 0.05704
NM_024809.5(TCTN2):c.-95G>A rs7980060 0.02722

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