ClinVar Miner

List of variants in gene LOC114004390, SH3TC2 studied for Charcot-Marie-Tooth disease type 4

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_024577.3(SH3TC2):c.-77C>T rs1017906109 0.00001
NC_000005.10:g.(?_149062971)_(149063174_?)del
NM_024577.3(SH3TC2):c.-92C>T rs886060200

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