List of variants in gene combination LOC130061271, MKS1 reported as uncertain significance for Familial aplasia of the vermis; Meckel-Gruber syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 20

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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.46C>T (p.Arg16Cys)	rs1011348762	0.00001
NM_017777.4(MKS1):c.64C>A (p.Arg22Ser)	rs1031187314	0.00001
NM_017777.4(MKS1):c.10A>G (p.Thr4Ala)	rs928775924
NM_017777.4(MKS1):c.20G>A (p.Ser7Asn)
NM_017777.4(MKS1):c.23C>G (p.Thr8Ser)
NM_017777.4(MKS1):c.31G>C (p.Gly11Arg)	rs762103206
NM_017777.4(MKS1):c.31G>T (p.Gly11Trp)
NM_017777.4(MKS1):c.32G>C (p.Gly11Ala)	rs375223375
NM_017777.4(MKS1):c.38C>A (p.Ala13Glu)	rs1969448667
NM_017777.4(MKS1):c.47G>A (p.Arg16His)	rs1969447926
NM_017777.4(MKS1):c.50C>T (p.Ser17Phe)
NM_017777.4(MKS1):c.53G>A (p.Arg18Gln)
NM_017777.4(MKS1):c.60C>T (p.Pro20=)
NM_017777.4(MKS1):c.62T>G (p.Val21Gly)
NM_017777.4(MKS1):c.68A>C (p.Asn23Thr)
NM_017777.4(MKS1):c.68A>G (p.Asn23Ser)
NM_017777.4(MKS1):c.80+4G>A
NM_017777.4(MKS1):c.80+6C>T

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