ClinVar Miner

List of variants reported as pathogenic for autosomal dominant Robinow syndrome 2 by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
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.1645_1646delinsC (p.Phe549fs) rs797044833
NM_001330311.2(DVL1):c.1667del (p.Pro556fs) rs2100714986
NM_001330311.2(DVL1):c.1690del (p.Ser564fs) rs797044837
NM_001330311.2(DVL1):c.1731del (p.Ser578fs) rs1553172962

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