ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 4F by Athena Diagnostics Inc

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_020956.2(PRX):c.*1421G>A rs117336941
NM_020956.2(PRX):c.*1688G>C rs146789340
NM_020956.2(PRX):c.*2860T>C rs268672
NM_020956.2(PRX):c.*2968A>G rs268673
NM_020956.2(PRX):c.*3453C>G rs3745202
NM_020956.2(PRX):c.*4264_*4266GGA[6] rs139624657
NM_020956.2(PRX):c.306C>T (p.Thr102=) rs744389
NM_181882.3(PRX):c.2787del (p.Lys930fs) rs754521978

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