ClinVar Miner

List of variants in gene TCTN2 reported as benign for Joubert syndrome 1

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_024809.4(TCTN2):c.-2G>A rs141768405
NM_024809.4(TCTN2):c.1128T>C (p.Pro376=) rs7966867
NM_024809.4(TCTN2):c.1585C>G (p.Leu529Val) rs113301547
NM_024809.4(TCTN2):c.225C>T (p.Asn75=) rs73416301
NM_024809.4(TCTN2):c.360C>G (p.Leu120=) rs142452647
NM_024809.4(TCTN2):c.599G>A (p.Arg200Gln) rs79251326
NM_024809.4(TCTN2):c.615C>T (p.Gly205=) rs147485641
NM_024809.4(TCTN2):c.635A>G (p.Asn212Ser) rs139927033
NM_024809.4(TCTN2):c.654C>T (p.Leu218=) rs138897437
NM_024809.4(TCTN2):c.720C>G (p.Pro240=) rs149430216
NM_024809.4(TCTN2):c.810C>T (p.Asp270=) rs144567556
NM_024809.4(TCTN2):c.83-4C>T rs73416299
NM_024809.4(TCTN2):c.873A>G (p.Ala291=) rs73418153
NM_024809.4(TCTN2):c.898C>T (p.Leu300=) rs77804131

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