List of variants in gene B9D2 reported as uncertain significance 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: 17

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HGVS	dbSNP	gnomAD frequency
NM_030578.4(B9D2):c.150G>C (p.Gln50His)	rs747988749	0.00014
NM_030578.4(B9D2):c.496C>T (p.Arg166Cys)	rs749611100	0.00004
NM_030578.4(B9D2):c.262C>T (p.Arg88Cys)	rs781608263	0.00003
NM_030578.4(B9D2):c.263G>A (p.Arg88His)	rs748803301	0.00003
NM_030578.4(B9D2):c.374G>A (p.Arg125Gln)	rs1054797	0.00003
NM_030578.4(B9D2):c.484G>T (p.Gly162Cys)	rs760322583	0.00002
NM_030578.4(B9D2):c.115G>A (p.Val39Met)	rs761158280
NM_030578.4(B9D2):c.131C>T (p.Thr44Met)
NM_030578.4(B9D2):c.157G>T (p.Asp53Tyr)	rs746928334
NM_030578.4(B9D2):c.163_164delinsAA (p.Ala55Asn)	rs1555756363
NM_030578.4(B9D2):c.238G>A (p.Val80Met)	rs760432560
NM_030578.4(B9D2):c.307C>T (p.Pro103Ser)
NM_030578.4(B9D2):c.484G>A (p.Gly162Ser)
NM_030578.4(B9D2):c.496C>G (p.Arg166Gly)
NM_030578.4(B9D2):c.508C>G (p.Arg170Gly)	rs371315485
NM_030578.4(B9D2):c.508C>T (p.Arg170Cys)
NM_030578.4(B9D2):c.509G>A (p.Arg170His)

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