List of variants in gene combination LOC130061271, MKS1 reported as pathogenic for Meckel 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: 9

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HGVS	dbSNP	gnomAD frequency
NM_017777.4(MKS1):c.79C>T (p.Arg27Ter)	rs1161451203	0.00002
NM_017777.4(MKS1):c.51_55dup (p.Asp19fs)	rs386834051	0.00001
NM_017777.4(MKS1):c.17G>A (p.Trp6Ter)
NM_017777.4(MKS1):c.2T>A (p.Met1Lys)
NM_017777.4(MKS1):c.2T>C (p.Met1Thr)
NM_017777.4(MKS1):c.34G>T (p.Glu12Ter)	rs1183365510
NM_017777.4(MKS1):c.50_54dup (p.Asp19fs)	rs730880323
NM_017777.4(MKS1):c.55G>T (p.Asp19Tyr)	rs863225205
NM_017777.4(MKS1):c.80+2T>C	rs386834052

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