ClinVar Miner

List of variants studied for spinal muscular atrophy, type IV

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000344.4(SMN1):c.865T>A (p.Cys289Ser) rs187925143 0.00007
NM_000344.4(SMN1):c.835-3C>T rs772466166 0.00001
NC_000005.10:g.70946066_70946176del rs1554082110
NM_000344.4(SMN1):c.399_402del (p.Glu134fs) rs77668214

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