ClinVar Miner

List of variants in gene DYM reported as uncertain significance for Smith-McCort dysplasia

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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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 0.00148
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.980C>A (p.Ala327Asp) rs147724274 0.00044
NM_001353214.3(DYM):c.321G>A (p.Leu107=) rs16950519 0.00032
NM_017653.6(DYM):c.1461-8T>G rs374658638 0.00026
NM_001353214.3(DYM):c.*12T>C rs45452499 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.*123G>A rs886053843 0.00006
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_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.21A>T (p.Arg7Ser) rs765630940 0.00003
NM_001353214.3(DYM):c.920C>T (p.Ala307Val) rs200843715 0.00003
NM_001353214.3(DYM):c.-294C>T rs369624199 0.00002
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.259G>A (p.Glu87Lys) rs120074164
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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