ClinVar Miner

List of variants reported as pathogenic for Meckel syndrome, type 8

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000549.5(TSHB):c.373del (p.Cys125fs) rs755485552 0.00017
NM_000549.5(TSHB):c.205C>T (p.Gln69Ter) rs121918670 0.00002
NM_024809.5(TCTN2):c.1506-2A>G rs374349989 0.00002
NM_024809.5(TCTN2):c.703del (p.Leu235fs) rs760830696 0.00002
NM_000549.5(TSHB):c.162+5G>A rs868637545 0.00001
NM_000549.5(TSHB):c.108_109del (p.Ala37fs) rs2101008674
NM_000549.5(TSHB):c.145G>A (p.Gly49Arg) rs121918668
NM_000549.5(TSHB):c.94G>T (p.Glu32Ter) rs121918669
NM_024809.5(TCTN2):c.134dup (p.Val46fs) rs797046040

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