List of variants in gene SUFU studied for Joubert syndrome

Minimum submission review status:		Collection method:
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Gene type:		Distinguish antisense genes from sense genes
		ClinVar version:

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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