ClinVar Miner

List of variants reported as uncertain significance for partial trisomy of the long arm of chromosome 5

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_005573.4(LMNB1):c.*284T>G rs550205958 0.00285
NM_005573.4(LMNB1):c.*54A>T rs370551700 0.00096
NM_005573.4(LMNB1):c.*631G>A rs569902214 0.00040
NM_005573.4(LMNB1):c.676C>T (p.Arg226Cys) rs142016804 0.00032
NM_005573.4(LMNB1):c.*270T>C rs1021872186 0.00013
NM_005573.4(LMNB1):c.*301T>C rs960666703 0.00011
NM_005573.4(LMNB1):c.1010G>A (p.Arg337His) rs994236399 0.00005
NM_005573.4(LMNB1):c.1161-6A>G rs765920630 0.00002
NM_005573.4(LMNB1):c.1306G>A (p.Ala436Thr) rs757576125 0.00002
NM_005573.4(LMNB1):c.360-8T>C rs376081850 0.00002
NM_005573.4(LMNB1):c.853A>G (p.Thr285Ala) rs374998378 0.00002
NM_005573.4(LMNB1):c.*629G>A rs761208282 0.00001
NM_005573.4(LMNB1):c.*640G>A rs1294635743 0.00001
NM_005573.4(LMNB1):c.1387-3T>C rs886059859 0.00001
NM_005573.4(LMNB1):c.411A>T (p.Glu137Asp) rs1205547665 0.00001
NM_005573.4(LMNB1):c.775C>T (p.Leu259=) rs575662572 0.00001
NM_005573.4(LMNB1):c.889C>T (p.Arg297Cys) rs748056618 0.00001
NM_005573.4(LMNB1):c.*189T>G rs1752249694
NM_005573.4(LMNB1):c.*629G>C rs761208282
NM_005573.4(LMNB1):c.*634A>G rs1382551348
NM_005573.4(LMNB1):c.-159C>G rs886059857
NM_005573.4(LMNB1):c.-76G>T rs1371898314
NM_005573.4(LMNB1):c.1400G>T (p.Gly467Val)
NM_005573.4(LMNB1):c.1528C>T (p.Pro510Ser) rs765894554
NM_005573.4(LMNB1):c.227C>T (p.Thr76Ile) rs372142905
NM_005573.4(LMNB1):c.89T>A (p.Leu30His) rs2479404161
NM_005573.4(LMNB1):c.916C>T (p.Gln306Ter) rs867579692
NM_005573.4(LMNB1):c.987T>C (p.Ala329=) rs1751792373

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