ClinVar Miner

List of variants studied for congenital myopathy by UCLA Clinical Genomics Center, UCLA

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_000257.4(MYH7):c.1544T>C (p.Met515Thr) rs863224900
NM_001849.4(COL6A2):c.2096G>A (p.Gly699Asp) rs863224861
NM_002693.2(POLG):c.[2554C>T];[32G>A]
NM_133378.4(TTN):c.[38532C>A];[52301A>G]
NM_133378.4(TTN):c.[98049dupA];[99250C>T]

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