ClinVar Miner

List of variants in gene DVL1 studied for autosomal dominant Robinow syndrome

Included ClinVar conditions (4):
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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001330311.2(DVL1):c.366A>G (p.Pro122=) rs307362 0.99656
NM_001330311.2(DVL1):c.171-99A>G rs307361 0.97351
NM_001330311.2(DVL1):c.1715-602T>C rs307372 0.97350
NM_001330311.2(DVL1):c.-45C>T rs150789461 0.80772
NM_001330311.2(DVL1):c.1366A>G (p.Thr456Ala) rs140107023 0.00213
NM_001330311.2(DVL1):c.272C>T (p.Ala91Val) rs145496306 0.00208
NM_001330311.2(DVL1):c.1502G>C (p.Cys501Ser) rs139708222 0.00055
NM_001330311.2(DVL1):c.433C>T (p.Arg145Trp) rs142925511 0.00009
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.1398G>T (p.Glu466Asp) rs2100718483
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.1682_1683dup (p.Ser562fs) rs1643642110
NM_001330311.2(DVL1):c.1715-1G>A rs2100704859
NM_001330311.2(DVL1):c.1731del (p.Ser578fs) rs1553172962
NM_001330311.2(DVL1):c.2005G>T (p.Val669Phe) rs374440563
NM_001330311.2(DVL1):c.2078_*7del (p.Asp693_Ter696delinsXaa) rs1643562079
NM_001330311.2(DVL1):c.347G>A (p.Arg116Gln)
NM_001330311.2(DVL1):c.363-1G>C
NM_001330311.2(DVL1):c.499C>T (p.Arg167Ter) rs775845636
NM_001330311.2(DVL1):c.605+70GT[4] rs145370195
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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