ClinVar Miner

List of variants in gene combination NEB, RIF1 reported as uncertain significance for Nemaline Myopathy, Recessive

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Total variants: 39
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HGVS dbSNP
NM_001271208.2(NEB):c.*36C>T rs773628949
NM_001271208.2(NEB):c.*57C>T rs566096042
NM_001271208.2(NEB):c.21524T>C (p.Ile7175Thr) rs200112795
NM_001271208.2(NEB):c.21624C>T (p.Ser7208=) rs16830170
NM_001271208.2(NEB):c.21825C>T (p.Tyr7275=) rs34718443
NM_001271208.2(NEB):c.21945+13A>C rs75515097
NM_001271208.2(NEB):c.21966G>A (p.Arg7322=) rs372808358
NM_001271208.2(NEB):c.22078G>A (p.Glu7360Lys) rs747662624
NM_001271208.2(NEB):c.22110G>A (p.Thr7370=) rs201400523
NM_001271208.2(NEB):c.22155+13C>T rs113403461
NM_001271208.2(NEB):c.22215A>G (p.Pro7405=) rs539800267
NM_001271208.2(NEB):c.22292A>G (p.Lys7431Arg) rs201548700
NM_001271208.2(NEB):c.22377+7T>C rs762551492
NM_001271208.2(NEB):c.22378-5T>C rs886054929
NM_001271208.2(NEB):c.22544A>C (p.Asp7515Ala) rs886054928
NM_001271208.2(NEB):c.22607A>G (p.Asp7536Gly) rs771620082
NM_001271208.2(NEB):c.22782A>T (p.Thr7594=) rs778662915
NM_001271208.2(NEB):c.22955A>G (p.Asp7652Gly) rs776739582
NM_001271208.2(NEB):c.22983C>A (p.Ala7661=) rs185574478
NM_001271208.2(NEB):c.23075C>T (p.Thr7692Met) rs770889470
NM_001271208.2(NEB):c.23118C>T (p.Ser7706=) rs370873040
NM_001271208.2(NEB):c.23160G>A (p.Gly7720=) rs563896790
NM_001271208.2(NEB):c.23232+4G>A rs764457781
NM_001271208.2(NEB):c.23254G>C (p.Glu7752Gln) rs766321668
NM_001271208.2(NEB):c.24010C>T (p.Arg8004Cys) rs201419564
NM_001271208.2(NEB):c.24554T>C (p.Met8185Thr) rs774559645
NM_001271208.2(NEB):c.24625G>A (p.Ala8209Thr) rs199937246
NM_001271208.2(NEB):c.24745A>G (p.Arg8249Gly) rs772803200
NM_001271208.2(NEB):c.24862A>G (p.Ile8288Val) rs551649582
NM_001271208.2(NEB):c.25024C>A (p.Pro8342Thr) rs886054927
NM_001271208.2(NEB):c.25133G>A (p.Arg8378Gln) rs886054926
NM_001271208.2(NEB):c.25140C>T (p.Asp8380=) rs201825451
NM_001271208.2(NEB):c.25143A>G (p.Gln8381=) rs184319249
NM_001271208.2(NEB):c.25212A>G (p.Pro8404=) rs763433145
NM_001271208.2(NEB):c.25270C>T (p.Arg8424Trp) rs373551215
NM_001271208.2(NEB):c.25363T>C (p.Ser8455Pro) rs886054925
NM_001271208.2(NEB):c.25472C>T (p.Thr8491Met) rs78592085
NM_001271208.2(NEB):c.25519C>T (p.Arg8507Cys) rs542706227
NM_001271208.2(NEB):c.25669G>A (p.Val8557Ile) rs117861109

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