ClinVar Miner

List of variants studied for spinal muscular atrophy by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

Included ClinVar conditions (88):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_001003800.2(BICD2):c.1579C>G (p.Leu527Val)
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys) rs797045412
NM_021625.5(TRPV4):c.1781G>A (p.Arg594His) rs77975504

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