ClinVar Miner

List of variants studied for Meckel syndrome, type 8 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_024809.5(TCTN2):c.668C>T (p.Thr223Met) rs145374149 0.00124
NM_000549.5(TSHB):c.373del (p.Cys125fs) rs755485552 0.00017
NM_024809.5(TCTN2):c.259C>T (p.Pro87Ser) rs138562955 0.00005
NM_000549.5(TSHB):c.162+5G>A rs868637545 0.00001
NM_024809.5(TCTN2):c.988C>T (p.Arg330Ter) rs754596743 0.00001
NM_024809.5(TCTN2):c.1579G>A (p.Ala527Thr) rs760206821

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