ClinVar Miner

List of variants in gene LOC107882126, TGM1 studied for autosomal recessive congenital ichthyosis

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000359.3(TGM1):c.-182C>T rs2273301 0.05480
NM_000359.3(TGM1):c.-42C>T rs8003142 0.00264
NM_000359.3(TGM1):c.-24C>T rs147260129 0.00124
NM_000359.3(TGM1):c.-181G>A rs535043603 0.00061
NM_000359.3(TGM1):c.1A>G (p.Met1Val) rs760172387 0.00001
NM_000359.3(TGM1):c.-183_-182insT rs2040830067
NM_000359.3(TGM1):c.-2-1G>A rs776068111
NM_000359.3(TGM1):c.-2-1G>C

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