ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease type 2P by Illumina Clinical Services Laboratory,Illumina

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Total variants: 25
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HGVS dbSNP
NM_138361.5(LRSAM1):c.*590T>C rs139260397
NM_138361.5(LRSAM1):c.1141C>T (p.Arg381Trp)
NM_138361.5(LRSAM1):c.1153G>A (p.Val385Ile) rs373570877
NM_138361.5(LRSAM1):c.1225C>G (p.Gln409Glu) rs149540339
NM_138361.5(LRSAM1):c.1351G>A (p.Ala451Thr)
NM_138361.5(LRSAM1):c.1382A>T (p.Gln461Leu) rs145382004
NM_138361.5(LRSAM1):c.1504-5C>G rs377190920
NM_138361.5(LRSAM1):c.1601C>T (p.Thr534Met) rs141542114
NM_138361.5(LRSAM1):c.1746G>A (p.Ser582=) rs199997686
NM_138361.5(LRSAM1):c.1930G>T (p.Gly644Cys) rs201284198
NM_138361.5(LRSAM1):c.1950G>A (p.Thr650=) rs199887448
NM_138361.5(LRSAM1):c.1974T>C (p.Ser658=) rs140336379
NM_138361.5(LRSAM1):c.2111G>A (p.Arg704His) rs140808447
NM_138361.5(LRSAM1):c.284C>T (p.Ala95Val) rs570248730
NM_138361.5(LRSAM1):c.406+15G>T rs201808404
NM_138361.5(LRSAM1):c.458G>A (p.Arg153His) rs368689811
NM_138361.5(LRSAM1):c.480C>T (p.Asn160=) rs147205387
NM_138361.5(LRSAM1):c.569G>A (p.Arg190Gln) rs142782210
NM_138361.5(LRSAM1):c.586G>A (p.Gly196Ser) rs148059394
NM_138361.5(LRSAM1):c.685G>A (p.Glu229Lys) rs563259179
NM_138361.5(LRSAM1):c.706G>A (p.Asp236Asn)
NM_138361.5(LRSAM1):c.751-8C>G rs367823841
NM_138361.5(LRSAM1):c.917T>G (p.Leu306Arg) rs140151379
NM_138361.5(LRSAM1):c.94G>A (p.Asp32Asn) rs150784835
NM_138361.5(LRSAM1):c.954C>T (p.Asn318=) rs200527839

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