ClinVar Miner

List of variants reported as likely 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: 8
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HGVS dbSNP gnomAD frequency
NM_024809.5(TCTN2):c.-55C>A rs78846567 0.03708
NM_000549.5(TSHB):c.-13A>G rs77331078 0.01269
NM_024809.5(TCTN2):c.*67C>T rs112214860 0.01216
NM_024809.5(TCTN2):c.*45G>A rs142969969 0.01053
NM_024809.5(TCTN2):c.898C>T (p.Leu300=) rs77804131 0.01030
NM_024809.5(TCTN2):c.2041T>C (p.Leu681=) rs112158562 0.01028
NM_024809.5(TCTN2):c.654C>T (p.Leu218=) rs138897437 0.00188
NM_000549.5(TSHB):c.223A>G (p.Arg75Gly) rs201857310 0.00003

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