List of variants studied for microcephaly, short stature, and impaired glucose metabolism 1

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001134665.3(TRMT10A):c.398G>A (p.Arg133Gln)	rs10007569	0.00073
NM_001134665.3(TRMT10A):c.388G>A (p.Ala130Thr)	rs149241895	0.00008
NM_001134665.3(TRMT10A):c.226C>T (p.Arg76Ter)	rs748994888	0.00004
NM_001134665.3(TRMT10A):c.151C>T (p.Gln51Ter)
NM_001134665.3(TRMT10A):c.23dup (p.Phe9fs)	rs1383664881
NM_001134665.3(TRMT10A):c.346A>T (p.Lys116Ter)
NM_001134665.3(TRMT10A):c.348G>C (p.Lys116Asn)	rs1724234465
NM_001134665.3(TRMT10A):c.379C>T (p.Arg127Ter)	rs587777743
NM_001134665.3(TRMT10A):c.388G>T (p.Ala130Ser)	rs149241895
NM_001134665.3(TRMT10A):c.41del (p.Asn14fs)
NM_001134665.3(TRMT10A):c.616G>A (p.Gly206Arg)	rs587777744
NM_001134665.3(TRMT10A):c.697_698delinsTA (p.Pro233Ter)	rs1723938282

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