ClinVar Miner

List of variants studied for nemaline myopathy 10 by OMIM

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_198271.5(LMOD3):c.1201C>T (p.Arg401Ter) rs724159964 0.00001
NM_198271.5(LMOD3):c.1004A>G (p.Gln335Arg) rs1057519129
NM_198271.5(LMOD3):c.1069G>T (p.Glu357Ter) rs724159965
NM_198271.5(LMOD3):c.1099_1100del (p.Asn367fs) rs727502799
NM_198271.5(LMOD3):c.1100ACA[1] (p.Asn368del) rs727502798
NM_198271.5(LMOD3):c.138dup (p.Ser47fs) rs727502797
NM_198271.5(LMOD3):c.1648C>T (p.Leu550Phe) rs1057519128

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