List of variants in gene B9D1, LOC130060455 studied for Meckel syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 21

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015681.6(B9D1):c.63+23G>A	rs10445411	0.56182
NM_015681.6(B9D1):c.11C>G (p.Ala4Gly)	rs148563865	0.00019
NM_015681.6(B9D1):c.33C>T (p.Leu11=)	rs751480715	0.00004
NM_015681.6(B9D1):c.41A>G (p.Asn14Ser)	rs764022966	0.00004
NM_015681.6(B9D1):c.-42C>T	rs750522077	0.00002
NM_015681.6(B9D1):c.28C>G (p.Leu10Val)	rs1046425051	0.00001
NM_015681.6(B9D1):c.-21C>T	rs1911267997
NM_015681.6(B9D1):c.20G>A (p.Ser7Asn)	rs1911256730
NM_015681.6(B9D1):c.22G>A (p.Val8Ile)
NM_015681.6(B9D1):c.26T>G (p.Phe9Cys)
NM_015681.6(B9D1):c.30A>C (p.Leu10=)	rs781395275
NM_015681.6(B9D1):c.49G>A (p.Val17Met)
NM_015681.6(B9D1):c.55A>C (p.Ser19Arg)
NM_015681.6(B9D1):c.55A>G (p.Ser19Gly)	rs1280021718
NM_015681.6(B9D1):c.63+11G>A	rs2152278747
NM_015681.6(B9D1):c.63+16C>T
NM_015681.6(B9D1):c.63+19dup	rs2152278724
NM_015681.6(B9D1):c.63+20G>A	rs765907063
NM_015681.6(B9D1):c.63+20_63+43del	rs2152278609
NM_015681.6(B9D1):c.63+6C>A
NM_015681.6(B9D1):c.9C>G (p.Thr3=)	rs749611797

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.