ClinVar Miner

List of variants studied for spinal muscular atrophy by Lifecell International Pvt. Ltd

Included ClinVar conditions (89):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_002180.3(IGHMBP2):c.1591C>A (p.Pro531Thr) rs756985703

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