List of variants in gene TCTN2 reported as likely pathogenic for Meckel syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_024809.5(TCTN2):c.267+1G>A	rs141752910	0.00006
NM_024809.5(TCTN2):c.1612+1G>A	rs371537478	0.00005
NM_024809.5(TCTN2):c.988C>T (p.Arg330Ter)	rs754596743	0.00001
NM_024809.5(TCTN2):c.1033+1G>A
NM_024809.5(TCTN2):c.1286dup (p.Asn429fs)	rs1555293215
NM_024809.5(TCTN2):c.1312+1G>C
NM_024809.5(TCTN2):c.1751T>C (p.Ile584Thr)
NM_024809.5(TCTN2):c.1752A>G (p.Ile584Met)
NM_024809.5(TCTN2):c.1770-2A>G	rs1566265412
NM_024809.5(TCTN2):c.1852C>T (p.Gln618Ter)	rs1956235509
NM_024809.5(TCTN2):c.268-2A>G
NM_024809.5(TCTN2):c.565-1G>A
NM_024809.5(TCTN2):c.613G>A (p.Gly205Ser)
NM_024809.5(TCTN2):c.613G>T (p.Gly205Cys)	rs201827132
NM_024809.5(TCTN2):c.765-1G>A
NM_024809.5(TCTN2):c.765-1G>C
NM_024809.5(TCTN2):c.82+1G>T
NM_024809.5(TCTN2):c.83-2A>G
NM_024809.5(TCTN2):c.862_863del (p.Val288fs)	rs1955997540
NM_024809.5(TCTN2):c.891+1G>A

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