List of variants in gene TCTN2 reported by Genetic Services Laboratory, University of Chicago

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 23

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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.765-43A>T	rs7298831	0.42250
NM_024809.5(TCTN2):c.1235-28A>G	rs12831081	0.36516
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.898C>T (p.Leu300=)	rs77804131	0.01030
NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln)	rs79251326	0.00978
NM_024809.5(TCTN2):c.1505+3G>C	rs111574617	0.00377
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.654C>T (p.Leu218=)	rs138897437	0.00188
NM_024809.5(TCTN2):c.668C>T (p.Thr223Met)	rs145374149	0.00124
NM_024809.5(TCTN2):c.1723G>A (p.Ala575Thr)	rs202157566	0.00009
NM_024809.5(TCTN2):c.703del (p.Leu235fs)	rs760830696	0.00002
NM_024809.5(TCTN2):c.134dup (p.Val46fs)	rs797046040
NM_024809.5(TCTN2):c.333T>C (p.Asp111=)	rs534113568
NM_024809.5(TCTN2):c.671C>T (p.Thr224Met)	rs376996387

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