ClinVar Miner

List of variants in gene SUFU studied for Joubert syndrome

Included ClinVar conditions (57):
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Gene type:
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Total variants: 8
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HGVS dbSNP
NM_016169.3(SUFU):c.1028G>A (p.Arg343His) rs79299301
NM_016169.3(SUFU):c.1045A>G (p.Ser349Gly) rs368178771
NM_016169.3(SUFU):c.1217T>C (p.Ile406Thr) rs1554854758
NM_016169.3(SUFU):c.1232C>T (p.Thr411Met) rs368020224
NM_016169.3(SUFU):c.1379A>G (p.Lys460Arg) rs778125780
NM_016169.3(SUFU):c.275G>C (p.Ser92Thr) rs746322193
NM_016169.3(SUFU):c.325G>A (p.Gly109Arg)
NM_016169.3(SUFU):c.527A>G (p.His176Arg) rs1554852272

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