ClinVar Miner

List of variants in gene DYM reported as uncertain significance for Dyggve-Melchior-Clausen disease

Included ClinVar conditions (1):
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Total variants: 29
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HGVS dbSNP
NM_017653.5(DYM):c.-154G>T rs547563112
NM_017653.5(DYM):c.-169G>A rs886053849
NM_017653.5(DYM):c.-215G>A rs567710822
NM_017653.5(DYM):c.-222G>A rs374894787
NM_017653.5(DYM):c.-238G>T rs886053850
NM_017653.5(DYM):c.-243C>T rs886053851
NM_017653.5(DYM):c.-251G>T rs886053852
NM_017653.5(DYM):c.-294C>T rs369624199
NM_017653.5(DYM):c.-94G>C rs886053848
NM_017653.5(DYM):c.1115T>C (p.Met372Thr) rs886053844
NM_017653.5(DYM):c.1116G>A (p.Met372Ile) rs775476671
NM_017653.5(DYM):c.1251+12T>C rs374105000
NM_017653.5(DYM):c.1344A>G (p.Gln448=) rs77902523
NM_017653.5(DYM):c.1552C>T (p.Leu518=) rs145279594
NM_017653.5(DYM):c.1703G>A (p.Arg568Gln) rs138427861
NM_017653.5(DYM):c.1759T>C (p.Phe587Leu) rs151034190
NM_017653.5(DYM):c.1778A>G (p.Gln593Arg) rs146000214
NM_017653.5(DYM):c.1812G>A (p.Leu604=) rs201023000
NM_017653.5(DYM):c.1830C>T (p.Gly610=) rs370290857
NM_017653.5(DYM):c.21A>T (p.Arg7Ser) rs765630940
NM_017653.5(DYM):c.288-10G>A rs557407004
NM_017653.5(DYM):c.297C>T (p.Phe99=) rs886053847
NM_017653.5(DYM):c.321G>A (p.Leu107=) rs16950519
NM_017653.5(DYM):c.42T>G (p.Asn14Lys) rs768630165
NM_017653.5(DYM):c.573A>T (p.Glu191Asp) rs370414289
NM_017653.5(DYM):c.831T>C (p.Ser277=) rs886053846
NM_017653.5(DYM):c.920C>T (p.Ala307Val) rs200843715
NM_017653.5(DYM):c.961C>T (p.Pro321Ser) rs886053845
NM_017653.5(DYM):c.980C>A (p.Ala327Asp) rs147724274

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