ClinVar Miner

List of variants studied for autosomal dominant Robinow syndrome 2 by GeneReviews

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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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.1604del (p.Gly535fs) rs797044838
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.1690del (p.Ser564fs) rs797044837
NM_004423.4(DVL3):c.1585del (p.Ala529fs) rs869025215
NM_004423.4(DVL3):c.1617del (p.Gln539fs) rs1553811652
NM_004423.4(DVL3):c.1715-1G>A rs869025217
NM_004423.4(DVL3):c.1715-2A>G rs869025216
NM_004423.4(DVL3):c.1716del (p.Ser573fs) rs869025218
NM_004423.4(DVL3):c.1749del (p.Ser583fs) rs869025219

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