ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease by NeuroMeGen,Hospital Clinico Santiago de Compostela

Included ClinVar conditions (127):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000166.5(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_007287.2(MME):c.1666C>T (p.Pro556Ser)
NM_007287.2(MME):c.1972G>A (p.Ala658Thr)
NM_018706.7(DHTKD1):c.1543C>A (p.Pro515Thr)
NM_024577.3(SH3TC2):c.2640delC (p.Asn881Ilefs)
NM_024577.3(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.3(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462

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