ClinVar Miner

List of variants studied for Norman-Roberts syndrome by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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NM_005045.4(RELN):c.10074A>G (p.Ala3358=) rs1062831
NM_005045.4(RELN):c.10182-11G>A rs57844600
NM_005045.4(RELN):c.2932A>G (p.Thr978Ala) rs3025962
NM_005045.4(RELN):c.4937-4del rs35268159
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) rs41275239
NM_005045.4(RELN):c.578-3T>C rs607755
NM_005045.4(RELN):c.6078C>T (p.Asn2026=) rs79610081
NM_005045.4(RELN):c.6084C>T (p.Gly2028=) rs114019779
NM_005045.4(RELN):c.7887T>C (p.Pro2629=) rs56345626
NM_005045.4(RELN):c.8046T>C (p.His2682=) rs2229864
NM_005045.4(RELN):c.8136A>G (p.Leu2712=) rs3808039
NM_005045.4(RELN):c.8843+3A>C rs200124755
NM_005045.4(RELN):c.8843+7G>C rs2711885
NM_005045.4(RELN):c.8950+16G>A rs76565991

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