List of variants reported as uncertain significance for Dyggve-Melchior-Clausen disease by Illumina Laboratory Services, Illumina

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

Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_001353214.3(DYM):c.1717C>T (p.Leu573=)	rs145279594	0.00174
NM_001353214.3(DYM):c.620+4T>G	rs201652921	0.00143
NM_001353214.3(DYM):c.1868G>A (p.Arg623Gln)	rs138427861	0.00111
NM_001353214.3(DYM):c.1943A>G (p.Gln648Arg)	rs146000214	0.00061
NM_001353214.3(DYM):c.-154G>T	rs547563112	0.00051
NM_001353214.3(DYM):c.321G>A (p.Leu107=)	rs16950519	0.00050
NM_001353214.3(DYM):c.980C>A (p.Ala327Asp)	rs147724274	0.00043
NM_017653.6(DYM):c.1461-8T>G	rs374658638	0.00024
NM_001353214.3(DYM):c.573A>T (p.Glu191Asp)	rs370414289	0.00019
NM_001353214.3(DYM):c.*123G>A	rs886053843	0.00011
NM_001353214.3(DYM):c.*12T>C	rs45452499	0.00011
NM_001353214.3(DYM):c.-243C>T	rs886053851	0.00011
NM_001353214.3(DYM):c.1924T>C (p.Phe642Leu)	rs151034190	0.00011
NM_001353214.3(DYM):c.-169G>A	rs886053849	0.00008
NM_001353214.3(DYM):c.-215G>A	rs567710822	0.00008
NM_001353214.3(DYM):c.1977G>A (p.Leu659=)	rs201023000	0.00005
NM_001353214.3(DYM):c.2164G>T (p.Asp722Tyr)	rs528865224	0.00005
NM_001353214.3(DYM):c.-94G>C	rs886053848	0.00004
NM_001353214.3(DYM):c.1344A>G (p.Gln448=)	rs77902523	0.00004
NM_001353214.3(DYM):c.1251+12T>C	rs374105000	0.00003
NM_001353214.3(DYM):c.1995C>T (p.Gly665=)	rs370290857	0.00003
NM_001353214.3(DYM):c.920C>T (p.Ala307Val)	rs200843715	0.00003
NM_001353214.3(DYM):c.-222G>A	rs374894787	0.00002
NM_001353214.3(DYM):c.-294C>T	rs369624199	0.00002
NM_001353214.3(DYM):c.-238G>T	rs886053850	0.00001
NM_001353214.3(DYM):c.1115T>C (p.Met372Thr)	rs886053844	0.00001
NM_001353214.3(DYM):c.1116G>A (p.Met372Ile)	rs775476671	0.00001
NM_001353214.3(DYM):c.21A>T (p.Arg7Ser)	rs765630940	0.00001
NM_001353214.3(DYM):c.-251G>T	rs886053852
NM_001353214.3(DYM):c.2053G>A (p.Val685Met)	rs757286463
NM_001353214.3(DYM):c.297C>T (p.Phe99=)	rs886053847
NM_001353214.3(DYM):c.42T>G (p.Asn14Lys)	rs768630165
NM_001353214.3(DYM):c.831T>C (p.Ser277=)	rs886053846
NM_001353214.3(DYM):c.961C>T (p.Pro321Ser)	rs886053845

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