ClinVar Miner

List of variants in gene LOC126807546, SH3TC2 studied for Charcot-Marie-Tooth disease type 4C

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_024577.4(SH3TC2):c.*19919T>C rs2217638 0.77125
NM_024577.4(SH3TC2):c.*19573G>A rs4560536 0.51021
NM_024577.4(SH3TC2):c.*20463T>C rs77021631 0.16394
NM_024577.4(SH3TC2):c.*20166T>A rs17795091 0.16389
NM_024577.4(SH3TC2):c.*20207C>T rs114079860 0.02033
NM_024577.4(SH3TC2):c.*20512C>A rs76577532 0.00463
NM_024577.4(SH3TC2):c.*20142A>G rs189978591 0.00313
NM_024577.4(SH3TC2):c.*20469C>T rs886060097 0.00026
NM_024577.4(SH3TC2):c.*20400A>C rs1019391321 0.00012
NM_024577.4(SH3TC2):c.*19631T>A rs961541157 0.00010
NM_024577.4(SH3TC2):c.*20362T>C rs571268825 0.00010
NM_024577.4(SH3TC2):c.*20412A>T rs774453230 0.00009
NM_024577.4(SH3TC2):c.*20618C>T rs370869298 0.00002
NM_024577.4(SH3TC2):c.*20230G>T rs761890589 0.00001
NM_024577.4(SH3TC2):c.*20553A>G rs1419202542 0.00001
NM_024577.4(SH3TC2):c.*19552G>T rs1410058775
NM_024577.4(SH3TC2):c.*20086A>G rs1753304105
NM_024577.4(SH3TC2):c.*20099T>C rs73795728
NM_024577.4(SH3TC2):c.*20135C>T rs1753303246
NM_024577.4(SH3TC2):c.*20564A>T rs150905092

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