ClinVar Miner

List of variants reported as likely benign for autosomal dominant Robinow syndrome

Included ClinVar conditions (4):
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.1366A>G (p.Thr456Ala) rs140107023 0.00213
NM_001330311.2(DVL1):c.272C>T (p.Ala91Val) rs145496306 0.00208
NM_003392.7(WNT5A):c.14T>C (p.Ile5Thr) rs200914260 0.00129
NM_001330311.2(DVL1):c.1502G>C (p.Cys501Ser) rs139708222 0.00055
NM_003392.7(WNT5A):c.522G>T (p.Pro174=) rs559836923 0.00019
NM_003392.7(WNT5A):c.807G>A (p.Lys269=) rs117338660 0.00016
NM_003392.7(WNT5A):c.502G>A (p.Ala168Thr) rs572796263 0.00009
NM_004560.4(ROR2):c.*766T>C rs548573232 0.00006
NM_003392.7(WNT5A):c.6+18T>A rs192224802 0.00004
NM_003392.7(WNT5A):c.684+18C>A rs1264331427 0.00003
NM_003392.7(WNT5A):c.291G>A (p.Ala97=) rs762941459 0.00001
NM_001330311.2(DVL1):c.1398G>T (p.Glu466Asp) rs2100718483
NM_003392.7(WNT5A):c.*1452AATATA[4] rs538418882
NM_004423.4(DVL3):c.466A>T (p.Thr156Ser)

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