List of variants in gene TCTN2 reported as benign for Meckel syndrome

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
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+22T>C	rs7302449	0.50676
NM_024809.5(TCTN2):c.891+7G>A	rs7313032	0.42667
NM_024809.5(TCTN2):c.1393+7C>T	rs7298440	0.36136
NM_024809.5(TCTN2):c.873A>G (p.Ala291=)	rs73418153	0.05717
NM_024809.5(TCTN2):c.225C>T (p.Asn75=)	rs73416301	0.05714
NM_024809.5(TCTN2):c.83-4C>T	rs73416299	0.05712
NM_024809.5(TCTN2):c.-95G>A	rs7980060	0.02722
NM_024809.5(TCTN2):c.1612+12C>T	rs117614122	0.01410
NM_024809.5(TCTN2):c.898C>T (p.Leu300=)	rs77804131	0.01030
NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln)	rs79251326	0.00978
NM_024809.5(TCTN2):c.810C>T (p.Asp270=)	rs144567556	0.00376
NM_024809.5(TCTN2):c.1585C>G (p.Leu529Val)	rs113301547	0.00373
NM_024809.5(TCTN2):c.720C>G (p.Pro240=)	rs149430216	0.00236
NM_024809.5(TCTN2):c.-2G>A	rs141768405	0.00224
NM_024809.5(TCTN2):c.1985-12A>G	rs78123598	0.00188
NM_024809.5(TCTN2):c.654C>T (p.Leu218=)	rs138897437	0.00188
NM_024809.5(TCTN2):c.360C>G (p.Leu120=)	rs142452647	0.00165
NM_024809.5(TCTN2):c.615C>T (p.Gly205=)	rs147485641	0.00143
NM_024809.5(TCTN2):c.888G>A (p.Pro296=)	rs116845100	0.00068
NM_024809.5(TCTN2):c.1100-17T>C	rs538341461	0.00049
NM_024809.5(TCTN2):c.635A>G (p.Asn212Ser)	rs139927033	0.00046
NM_024809.5(TCTN2):c.1643C>T (p.Pro548Leu)	rs199931630	0.00027
NM_024809.5(TCTN2):c.565-18T>G	rs368179378	0.00012
NM_024809.5(TCTN2):c.1506-17G>A

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