ClinVar Miner

List of variants in gene TRMT10A reported as likely pathogenic for Microcephaly, short stature, and impaired glucose metabolism 1

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001134665.3(TRMT10A):c.226C>T (p.Arg76Ter) rs748994888 0.00004
NM_001134665.3(TRMT10A):c.379C>T (p.Arg127Ter) rs587777743
NM_001134665.3(TRMT10A):c.41del (p.Asn14fs)
NM_001134665.3(TRMT10A):c.697_698delinsTA (p.Pro233Ter) rs1723938282

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