ClinVar Miner

List of variants in gene DVL1 reported as uncertain significance for autosomal dominant Robinow syndrome 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001330311.2(DVL1):c.665G>A (p.Arg222Gln) rs143283367 0.00008
NM_001330311.2(DVL1):c.1454A>G (p.Asn485Ser) rs780909370 0.00001
NM_001330311.2(DVL1):c.382C>T (p.Arg128Cys) rs762913745 0.00001
NM_001330311.2(DVL1):c.118C>G (p.Arg40Gly)
NM_001330311.2(DVL1):c.2005G>T (p.Val669Phe) rs374440563
NM_001330311.2(DVL1):c.347G>A (p.Arg116Gln)
NM_001330311.2(DVL1):c.499C>T (p.Arg167Ter) rs775845636
NM_001330311.2(DVL1):c.691G>C (p.Ala231Pro) rs2100735835
NM_001330311.2(DVL1):c.737C>T (p.Ser246Phe) rs113333411
NM_001330311.2(DVL1):c.860G>A (p.Gly287Glu)
NM_001330311.2(DVL1):c.863C>T (p.Ala288Val) rs1643737262

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