ClinVar Miner

List of variants reported as benign for autosomal recessive multiple pterygium syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_000751.3(CHRND):c.*52A>G rs2767
NM_000751.3(CHRND):c.*885T>C rs1004175
NM_000751.3(CHRND):c.12A>G (p.Pro4=) rs2245601
NM_001039523.3(CHRNA1):c.190-5del rs34695580
NM_001039523.3(CHRNA1):c.854-13_854-12del rs67309103

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