ClinVar Miner

List of variants studied for autosomal dominant Robinow syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_003392.7(WNT5A):c.*2711del rs374459457 0.01120
NM_004560.4(ROR2):c.*766T>C rs548573232 0.00006
NM_003392.7(WNT5A):c.547G>A (p.Gly183Ser) rs1393089710 0.00001
NM_003392.6(WNT5A):c.-394_-392delCCA rs886058749
NM_003392.7(WNT5A):c.*1428TA[6] rs374828022
NM_003392.7(WNT5A):c.*1428TA[8] rs374828022
NM_003392.7(WNT5A):c.*1444TA[5] rs886058741
NM_003392.7(WNT5A):c.*1452AATATA[4] rs538418882
NM_003392.7(WNT5A):c.*1952_*1953del rs78756487
NM_003392.7(WNT5A):c.*1952_*1953dup rs78756487
NM_003392.7(WNT5A):c.*1953dup rs78756487
NM_003392.7(WNT5A):c.*2711_*2713del rs760058727
NM_003392.7(WNT5A):c.*2728_*2730del rs886058738
NM_003392.7(WNT5A):c.*2728del rs142609857
NM_003392.7(WNT5A):c.*2731dup rs886058737
NM_003392.7(WNT5A):c.*3932CT[3] rs886058733
NM_003392.7(WNT5A):c.*4179dup rs56661203
NM_004560.4(ROR2):c.*170AG[1] rs140581955

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