ClinVar Miner

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

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_031296.2(RAB33B):c.-205G>C rs13126617 0.20381
NM_017653.4(DYM):c.-309G>C rs28364579 0.07544
NM_001353214.3(DYM):c.1914G>C (p.Val638=) rs60818038 0.03859
NM_001353214.3(DYM):c.421A>G (p.Ser141Gly) rs61729806 0.01220
NM_001353214.3(DYM):c.342G>A (p.Leu114=) rs35357262 0.00822
NM_001353214.3(DYM):c.*22G>A rs113500346 0.00614
NM_031296.2(RAB33B):c.-363G>A rs535498698 0.00494
NM_031296.2(RAB33B):c.-167A>C rs190790812 0.00374
NM_031296.2(RAB33B):c.-164G>A rs76593161 0.00212
NM_001353214.3(DYM):c.1717C>T (p.Leu573=) rs145279594 0.00174
NM_001353214.3(DYM):c.1868G>A (p.Arg623Gln) rs138427861 0.00113
NM_001353214.3(DYM):c.1943A>G (p.Gln648Arg) rs146000214 0.00065
NM_001353214.3(DYM):c.-154G>T rs547563112 0.00051
NM_001353214.3(DYM):c.980C>A (p.Ala327Asp) rs147724274 0.00044
NM_001353214.3(DYM):c.321G>A (p.Leu107=) rs16950519 0.00032
NM_031296.2(RAB33B):c.-193G>T rs886059075 0.00024
NM_031296.2(RAB33B):c.-342T>C rs886059073 0.00016
NM_031296.2(RAB33B):c.-163C>T rs886059076 0.00012
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.573A>T (p.Glu191Asp) rs370414289 0.00011
NM_001353214.3(DYM):c.-169G>A rs886053849 0.00010
NM_001353214.3(DYM):c.-215G>A rs567710822 0.00008
NM_001353214.3(DYM):c.*123G>A rs886053843 0.00006
NM_031296.2(RAB33B):c.-255C>T rs886059074 0.00006
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.1977G>A (p.Leu659=) rs201023000 0.00004
NM_031296.2(RAB33B):c.-160G>A rs774087744 0.00004
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.21A>T (p.Arg7Ser) rs765630940 0.00001
NM_001353214.3(DYM):c.-251G>T rs886053852
NM_001353214.3(DYM):c.1115T>C (p.Met372Thr) rs886053844
NM_001353214.3(DYM):c.1116G>A (p.Met372Ile) rs775476671
NM_001353214.3(DYM):c.2053G>A (p.Val685Met) rs757286463
NM_001353214.3(DYM):c.2164G>T (p.Asp722Tyr) rs528865224
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
NM_031296.2(RAB33B):c.-348G>C rs886059072
NM_031296.2(RAB33B):c.-368C>T rs886059071
NM_031296.3(RAB33B):c.*796_*797del rs10604111

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