List of variants in gene B9D2 reported as pathogenic for Meckel syndrome

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_030578.4(B9D2):c.301A>C (p.Ser101Arg)	rs1487082103	0.00001
NM_030578.4(B9D2):c.156_163del (p.Asp53fs)	rs786204189
NM_030578.4(B9D2):c.15C>A (p.His5Gln)	rs1388769907

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