ClinVar Miner

List of variants studied for Smith-McCort dysplasia by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 87
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HGVS dbSNP
NM_017653.4(DYM):c.-309G>C rs28364579
NM_017653.5(DYM):c.*123G>A rs886053843
NM_017653.5(DYM):c.*12T>C rs45452499
NM_017653.5(DYM):c.*22G>A rs113500346
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.1749G>C (p.Val583=) rs60818038
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.193+9G>A rs111744206
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.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.342G>A (p.Leu114=) rs35357262
NM_017653.5(DYM):c.421A>G (p.Ser141Gly) rs61729806
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
NM_031296.2(RAB33B):c.-160G>A rs774087744
NM_031296.2(RAB33B):c.-163C>T rs886059076
NM_031296.2(RAB33B):c.-164G>A rs76593161
NM_031296.2(RAB33B):c.-167A>C rs190790812
NM_031296.2(RAB33B):c.-193G>T rs886059075
NM_031296.2(RAB33B):c.-205G>C rs13126617
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.*1077G>A rs115582784
NM_031296.3(RAB33B):c.*118T>G rs886059077
NM_031296.3(RAB33B):c.*1303C>T rs4074940
NM_031296.3(RAB33B):c.*1310G>A rs886059082
NM_031296.3(RAB33B):c.*1403C>A rs75661332
NM_031296.3(RAB33B):c.*1751G>T rs114169513
NM_031296.3(RAB33B):c.*1819A>G rs557693738
NM_031296.3(RAB33B):c.*1976A>G rs886059083
NM_031296.3(RAB33B):c.*1994T>A rs886059084
NM_031296.3(RAB33B):c.*2026G>A rs144602972
NM_031296.3(RAB33B):c.*2132T>G rs575262316
NM_031296.3(RAB33B):c.*219A>G rs886059078
NM_031296.3(RAB33B):c.*2327G>A rs755193519
NM_031296.3(RAB33B):c.*254A>G rs78192594
NM_031296.3(RAB33B):c.*2599A>G rs886059085
NM_031296.3(RAB33B):c.*2651C>A rs3088313
NM_031296.3(RAB33B):c.*494A>C rs886059079
NM_031296.3(RAB33B):c.*543C>T rs79952078
NM_031296.3(RAB33B):c.*590T>C rs78607198
NM_031296.3(RAB33B):c.*595G>A rs13137997
NM_031296.3(RAB33B):c.*632A>G rs886059080
NM_031296.3(RAB33B):c.*701G>T rs187434569
NM_031296.3(RAB33B):c.*764G>A rs886059081
NM_031296.3(RAB33B):c.*776C>T rs77490600
NM_031296.3(RAB33B):c.*796_*797del rs10604111
NM_031296.3(RAB33B):c.-36C>T rs182647425
NM_031296.3(RAB33B):c.-48C>T rs748718122
NM_031296.3(RAB33B):c.-54C>G rs13128486
NM_031296.3(RAB33B):c.128A>G (p.Asn43Ser) rs371561776
NM_031296.3(RAB33B):c.135C>G (p.Gly45=) rs138534367
NM_031296.3(RAB33B):c.249+10T>C rs747305009
NM_031296.3(RAB33B):c.336C>T (p.Phe112=) rs142541603
NM_031296.3(RAB33B):c.417T>G (p.Asn139Lys) rs200448316
NM_031296.3(RAB33B):c.432T>C (p.Ile144=) rs769999843
NM_031296.3(RAB33B):c.553A>G (p.Asn185Asp) rs747031994
NM_031296.3(RAB33B):c.677C>T (p.Thr226Met) rs139823051

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