ClinVar Miner

List of variants in gene ABCA3 reported as likely benign by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser) rs45592239
NM_001089.3(ABCA3):c.4420C>T (p.Arg1474Trp) rs146709251
NM_001089.3(ABCA3):c.954C>T (p.Ile318=) rs35161127

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