ClinVar Miner

List of variants studied for fetal akinesia deformation sequence by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_173660.5(DOK7):c.1469C>T (p.Ser490Leu) rs77513082 0.00232
NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr) rs751889864 0.00002
NM_005592.4(MUSK):c.2365G>A (p.Gly789Ser) rs1057518966

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