List of variants in gene TTC21B studied for Joubert syndrome 1

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_024753.4(TTC21B):c.-145G>A	rs111867313	0.09068
NM_024753.5(TTC21B):c.2322+3A>G	rs79037278	0.00575
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val)	rs146496725	0.00537
NM_024753.4(TTC21B):c.-91T>C	rs772121352	0.00096
NM_024753.4(TTC21B):c.-107C>T	rs545898884	0.00091
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser)	rs149925563	0.00071
NM_024753.4(TTC21B):c.-94C>T	rs563836188	0.00021
NM_024753.4(TTC21B):c.-89C>G	rs868157832	0.00004
NM_024753.4(TTC21B):c.-75A>C	rs886055032
NM_024753.4(TTC21B):c.-82C>G	rs543599575
NM_024753.5(TTC21B):c.*1123dup	rs886055020
NM_024753.5(TTC21B):c.2569-10dup	rs144600502
NM_024753.5(TTC21B):c.95G>A (p.Arg32Lys)	rs886055028

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