ClinVar Miner

List of variants studied for congenital myopathy by Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital

Included ClinVar conditions (317):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.92821G>A (p.Ala30941Thr) rs777150584 0.00001
NM_000069.3(CACNA1S):c.259-2del
NM_001151.4(SLC25A4):c.448G>A (p.Ala150Thr)
NM_001267550.2(TTN):c.84299C>T (p.Thr28100Ile)
NM_032578.4(MYPN):c.55_56del (p.Ser19fs)

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