ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease axonal type 2S by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714 0.00001
NM_002180.3(IGHMBP2):c.1582G>A (p.Ala528Thr) rs724159960 0.00001
NM_002180.3(IGHMBP2):c.1118T>G (p.Val373Gly) rs724159959
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs) rs724159994
NM_002180.3(IGHMBP2):c.449+1G>T rs797044802
NM_002180.3(IGHMBP2):c.604T>G (p.Phe202Val) rs724159958

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