ClinVar Miner

List of variants in gene MED13L reported as uncertain significance by Invitae

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Total variants: 46
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HGVS dbSNP
NC_000012.11:g.(?_116534454)_(116534577_?)del
NM_015335.4(MED13L):c.1260A>C (p.Arg420Ser) rs768900677
NM_015335.4(MED13L):c.1928A>G (p.Asp643Gly) rs1344076513
NM_015335.4(MED13L):c.2354A>T (p.Gln785Leu) rs1555247342
NM_015335.4(MED13L):c.2488C>T (p.Arg830Cys) rs375719087
NM_015335.4(MED13L):c.3479G>A (p.Cys1160Tyr) rs1565997289
NM_015335.4(MED13L):c.3517G>A (p.Gly1173Ser) rs201987892
NM_015335.4(MED13L):c.3788G>A (p.Arg1263Gln) rs374506267
NM_015335.4(MED13L):c.3866C>T (p.Pro1289Leu) rs200187663
NM_015335.4(MED13L):c.3934+3A>G rs747852225
NM_015335.4(MED13L):c.401T>C (p.Leu134Pro) rs1565875400
NM_015335.4(MED13L):c.451G>A (p.Glu151Lys) rs773315749
NM_015335.4(MED13L):c.4880A>G (p.Gln1627Arg) rs752932375
NM_015335.4(MED13L):c.5162C>T (p.Ser1721Phe) rs755513948
NM_015335.4(MED13L):c.5615G>A (p.Arg1872His) rs28940310
NM_015335.4(MED13L):c.5631G>T (p.Gln1877His) rs1555241858
NM_015335.4(MED13L):c.6311C>T (p.Ala2104Val) rs1177608611
NM_015335.4(MED13L):c.6545A>G (p.Asn2182Ser) rs762926166
NM_015335.4(MED13L):c.656C>T (p.Thr219Met) rs191743300
NM_015335.4(MED13L):c.6570dup (p.Cys2191fs) rs1592888491
NM_015335.4(MED13L):c.722A>G (p.Tyr241Cys) rs564830776
NM_015335.5(MED13L):c.1127T>G (p.Met376Arg)
NM_015335.5(MED13L):c.1185A>C (p.Gln395His)
NM_015335.5(MED13L):c.1423A>G (p.Lys475Glu)
NM_015335.5(MED13L):c.2014C>T (p.Leu672Phe)
NM_015335.5(MED13L):c.2019A>T (p.Leu673Phe)
NM_015335.5(MED13L):c.2117G>A (p.Gly706Glu)
NM_015335.5(MED13L):c.2350C>T (p.Arg784Trp)
NM_015335.5(MED13L):c.2468G>A (p.Gly823Glu)
NM_015335.5(MED13L):c.2791-3C>T
NM_015335.5(MED13L):c.2812G>A (p.Val938Ile)
NM_015335.5(MED13L):c.2832T>A (p.Phe944Leu)
NM_015335.5(MED13L):c.3347C>A (p.Ser1116Tyr)
NM_015335.5(MED13L):c.3667A>G (p.Ile1223Val)
NM_015335.5(MED13L):c.4106G>C (p.Gly1369Ala)
NM_015335.5(MED13L):c.4471G>A (p.Glu1491Lys)
NM_015335.5(MED13L):c.4576C>G (p.Pro1526Ala)
NM_015335.5(MED13L):c.4907C>T (p.Thr1636Ile)
NM_015335.5(MED13L):c.4988C>T (p.Thr1663Met)
NM_015335.5(MED13L):c.5471A>G (p.Asn1824Ser)
NM_015335.5(MED13L):c.5716C>T (p.His1906Tyr)
NM_015335.5(MED13L):c.573G>C (p.Leu191Phe)
NM_015335.5(MED13L):c.5939T>A (p.Met1980Lys)
NM_015335.5(MED13L):c.603G>T (p.Gln201His)
NM_015335.5(MED13L):c.6347C>T (p.Ser2116Leu)
NM_015335.5(MED13L):c.805G>A (p.Val269Ile)

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