ClinVar Miner

List of variants reported as uncertain significance for Smith-McCort dysplasia 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP
NM_001353214.3(DYM):c.1626-8T>G rs374658638
NM_017653.5(DYM):c.*123G>A rs886053843
NM_017653.5(DYM):c.*12T>C rs45452499
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.1888G>A (p.Val630Met) rs757286463
NM_017653.5(DYM):c.1999G>T (p.Asp667Tyr) rs528865224
NM_017653.5(DYM):c.21A>T (p.Arg7Ser) rs765630940
NM_017653.5(DYM):c.259G>A (p.Glu87Lys) rs120074164
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.620+4T>G rs201652921
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
NM_031296.2(RAB33B):c.-160G>A rs774087744
NM_031296.2(RAB33B):c.-163C>T rs886059076
NM_031296.2(RAB33B):c.-167A>C rs190790812
NM_031296.2(RAB33B):c.-193G>T rs886059075
NM_031296.2(RAB33B):c.-255C>T rs886059074
NM_031296.2(RAB33B):c.-342T>C rs886059073
NM_031296.2(RAB33B):c.-348G>C rs886059072
NM_031296.2(RAB33B):c.-363G>A rs535498698
NM_031296.2(RAB33B):c.-368C>T rs886059071
NM_031296.3(RAB33B):c.*796_*797del rs10604111

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