ClinVar Miner

List of variants in gene SH3TC2 reported as likely pathogenic for Charcot-Marie-Tooth disease type 4

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926
NM_024577.3(SH3TC2):c.1A>G (p.Met1Val) rs864309709
NM_024577.3(SH3TC2):c.2431C>T
NM_024577.3(SH3TC2):c.2640del (p.Asn881fs) rs1561764569
NM_024577.3(SH3TC2):c.279+1G>A rs1198337036
NM_024577.3(SH3TC2):c.280-2A>G rs1561770798
NM_024577.3(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.3(SH3TC2):c.3054-2A>C
NM_024577.3(SH3TC2):c.3328-1G>T rs1554120331
NM_024577.3(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462
NM_024577.3(SH3TC2):c.385+2T>C rs773554464
NM_024577.3(SH3TC2):c.529+1G>A
NM_024577.3(SH3TC2):c.806-1G>A rs1554122560

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