List of variants in gene TCTN2 reported as benign for Joubert syndrome 24

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 14

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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.-55C>A	rs78846567	0.03708
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.654C>T (p.Leu218=)	rs138897437	0.00188

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