ClinVar Miner

List of variants studied for Joubert syndrome 16 by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_016464.4(TMEM138):c.193G>A (p.Val65Ile) rs763118625
NM_016464.4(TMEM138):c.261G>A (p.Val87=) rs35245221
NM_016464.4(TMEM138):c.461G>A (p.Arg154His)
NM_016464.4(TMEM138):c.56C>G (p.Ser19Cys)

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