List of variants in gene LOC130061271, MKS1 studied for cerebellar degeneration

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_017777.4(MKS1):c.10A>T (p.Thr4Ser)	rs928775924	0.00006
NM_017777.4(MKS1):c.36G>T (p.Glu12Asp)	rs1386455261	0.00004
NM_017777.4(MKS1):c.51_55dup (p.Asp19fs)	rs386834051	0.00001
NM_017777.3(MKS1):c.-34_-12del23	rs1244307754
NM_017777.4(MKS1):c.1A>G (p.Met1Val)	rs1555601787
NM_017777.4(MKS1):c.38C>A (p.Ala13Glu)	rs1969448667
NM_017777.4(MKS1):c.44A>G (p.Tyr15Cys)
NM_017777.4(MKS1):c.47G>A (p.Arg16His)	rs1969447926
NM_017777.4(MKS1):c.5C>T (p.Ala2Val)
NM_017777.4(MKS1):c.80+14C>G	rs761061379
NM_017777.4(MKS1):c.80+2T>C	rs386834052

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