ClinVar Miner

List of variants studied for Meckel syndrome by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000549.5(TSHB):c.40A>G (p.Thr14Ala) rs10776792 0.97659
NM_030578.4(B9D2):c.33A>G (p.Ile11Met) rs2241714 0.71244
NM_015681.6(B9D1):c.472+28C>T rs4924987 0.57381
NM_024809.5(TCTN2):c.1128T>C (p.Pro376=) rs7966867 0.54127
NM_024809.5(TCTN2):c.1099+19T>C rs7137946 0.50815
NM_024809.5(TCTN2):c.891+7G>A rs7313032 0.42667
NM_024809.5(TCTN2):c.1393+7C>T rs7298440 0.36136

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