ClinVar Miner

List of variants in gene CHRNA1 reported as uncertain significance for autosomal recessive multiple pterygium syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000079.4(CHRNA1):c.779-12_779-11del rs1491478953 0.00039
NM_000079.4(CHRNA1):c.779-12del rs67309103

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