ClinVar Miner

List of variants reported as likely benign for brachydactyly type B1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_004560.4(ROR2):c.1716G>A (p.Ser572=) rs139654946 0.00056
NM_004560.4(ROR2):c.-121A>C rs555789981 0.00026
NM_004560.4(ROR2):c.751C>T (p.Leu251=) rs368471121 0.00025
NM_004560.4(ROR2):c.1956G>A (p.Ser652=) rs374939956 0.00015
NM_004560.4(ROR2):c.155G>A (p.Gly52Asp) rs201425107 0.00009
NM_004560.4(ROR2):c.744G>A (p.Pro248=) rs757948078 0.00009
NM_004560.4(ROR2):c.1416G>A (p.Ala472=) rs201064212 0.00008
NM_004560.4(ROR2):c.153C>T (p.Asp51=) rs572950289 0.00004
NM_004560.4(ROR2):c.2649G>A (p.Met883Ile) rs373037095 0.00004
NM_004560.4(ROR2):c.1184-10T>C rs184670366 0.00002
NM_004560.4(ROR2):c.722C>A (p.Ala241Glu) rs771096772

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