List of variants reported as uncertain significance for Amelocerebrohypohidrotic syndrome by Illumina Laboratory Services, Illumina

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

Total variants: 37

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HGVS	dbSNP	gnomAD frequency
NM_024589.3(ROGDI):c.*44C>G	rs200440067	0.00096
NM_024589.3(ROGDI):c.783C>T (p.Phe261=)	rs142481526	0.00075
NM_024589.3(ROGDI):c.243C>T (p.Ala81=)	rs148051351	0.00073
NM_024589.3(ROGDI):c.432+13C>T	rs371432203	0.00071
NM_024589.2(ROGDI):c.-131C>G	rs186867384	0.00070
NM_024589.3(ROGDI):c.567G>A (p.Leu189=)	rs143000899	0.00059
NM_024589.2(ROGDI):c.-338C>T	rs757790008	0.00054
NM_024589.3(ROGDI):c.378G>C (p.Leu126=)	rs145588848	0.00026
NM_024589.3(ROGDI):c.*454G>A	rs540581745	0.00019
NM_024589.3(ROGDI):c.823-15C>T	rs372520122	0.00015
NM_024589.3(ROGDI):c.*54C>G	rs76593206	0.00009
NM_024589.3(ROGDI):c.410A>G (p.Lys137Arg)	rs374819268	0.00009
NM_024589.2(ROGDI):c.-127C>T	rs996686042	0.00006
NM_024589.3(ROGDI):c.822+14G>A	rs200558978	0.00006
NM_024589.3(ROGDI):c.389G>A (p.Arg130Gln)	rs374603311	0.00004
NM_024589.3(ROGDI):c.555G>C (p.Pro185=)	rs771793763	0.00004
NM_024589.2(ROGDI):c.-74A>C	rs886052039	0.00002
NM_024589.3(ROGDI):c.*208G>A	rs2082661454	0.00001
NM_024589.3(ROGDI):c.*246G>A	rs1039786573	0.00001
NM_024589.3(ROGDI):c.*451C>G	rs886052034	0.00001
NM_024589.3(ROGDI):c.391G>C (p.Asp131His)	rs1235377184	0.00001
NM_024589.3(ROGDI):c.507C>T (p.Pro169=)	rs767771299	0.00001
NM_024589.3(ROGDI):c.753C>T (p.Ile251=)	rs144581570	0.00001
NM_024589.2(ROGDI):c.-181G>A	rs891502822
NM_024589.2(ROGDI):c.-202delG	rs569838251
NM_024589.2(ROGDI):c.-325G>C	rs886052040
NM_024589.2(ROGDI):c.-342C>A	rs886052041
NM_024589.2(ROGDI):c.-379T>C	rs886052042
NM_024589.2(ROGDI):c.-68G>C	rs1167973629
NM_024589.2(ROGDI):c.-69C>T	rs886052038
NM_024589.2(ROGDI):c.-89G>T	rs538342367
NM_024589.3(ROGDI):c.*112C>T	rs886052036
NM_024589.3(ROGDI):c.*24C>T	rs756091670
NM_024589.3(ROGDI):c.*298G>A	rs545854112
NM_024589.3(ROGDI):c.*355G>T	rs886052035
NM_024589.3(ROGDI):c.117G>T (p.Lys39Asn)	rs956797047
NM_024589.3(ROGDI):c.436A>T (p.Met146Leu)	rs886052037

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