List of variants in gene DVL1 reported as pathogenic for autosomal dominant Robinow 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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001330311.2(DVL1):c.1547del (p.Thr516fs)	rs1569684523
NM_001330311.2(DVL1):c.1571_1583del (p.Pro524fs)	rs1553173420
NM_001330311.2(DVL1):c.1580_1592del (p.His527fs)	rs797044834
NM_001330311.2(DVL1):c.1583del (p.Pro528fs)	rs797044836
NM_001330311.2(DVL1):c.1594del (p.Trp532fs)	rs797044835
NM_001330311.2(DVL1):c.1598del (p.Pro533fs)	rs869025220
NM_001330311.2(DVL1):c.1604del (p.Gly535fs)	rs797044838
NM_001330311.2(DVL1):c.1631del (p.Gly544fs)	rs1643645439
NM_001330311.2(DVL1):c.1637del (p.Pro546fs)	rs797044839
NM_001330311.2(DVL1):c.1645_1646delinsC (p.Phe549fs)	rs797044833
NM_001330311.2(DVL1):c.1651_1658delinsG (p.Pro551fs)	rs797044840
NM_001330311.2(DVL1):c.1667del (p.Pro556fs)	rs2100714986
NM_001330311.2(DVL1):c.1731del (p.Ser578fs)	rs1553172962

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