List of variants reported as uncertain significance for Mandibuloacral dysplasia by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_005857.4(ZMPSTE24):c.-46G>A	rs200527699	0.00158
NM_005857.4(ZMPSTE24):c.-172A>C	rs151221982	0.00076
NM_005857.5(ZMPSTE24):c.*702C>T	rs900182370	0.00015
NM_170707.4(LMNA):c.936+12C>T	rs199881992	0.00004
NM_005857.4(ZMPSTE24):c.-55C>G	rs1057515558	0.00003
NM_005857.4(ZMPSTE24):c.-181A>G	rs531255312	0.00002
NM_170707.4(LMNA):c.-109G>T	rs886045360	0.00002
NM_005572.3(LMNA):c.-225C>A	rs886045355
NM_005857.4(ZMPSTE24):c.-185C>G	rs1057515563
NM_005857.5(ZMPSTE24):c.*181GAAT[1]	rs1040401350
NM_005857.5(ZMPSTE24):c.951_954+2del	rs747563189
NM_170707.4(LMNA):c.-142C>A	rs886045358
NM_170707.4(LMNA):c.-183C>A	rs886045357
NM_170707.4(LMNA):c.-5C>A	rs886045362
NM_170707.4(LMNA):c.-62C>A	rs886045361
NM_170707.4(LMNA):c.1698+124C>T	rs1057516022
NM_170707.4(LMNA):c.985C>A (p.Arg329Ser)	rs775159300

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