ClinVar Miner

List of variants studied for Congenital myopathy by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) rs118192140 0.00004
GRCh38/hg38 1q32.1(chr1:202434559-202604719)x0
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_001395058.1(MYO15B):c.2651+2T>A
NM_001395058.1(MYO15B):c.8109T>G (p.Asp2703Glu)
NM_005087.4(FXR1):c.247A>G (p.Lys83Glu) rs1721862059
NM_005087.4(FXR1):c.346A>G (p.Asn116Asp) rs1721905984
NM_006757.4(TNNT3):c.67+128G>A

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