ClinVar Miner

List of variants in gene MED13L reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_015335.5(MED13L):c.1127T>G (p.Met376Arg) rs1210016465 0.00004
NM_015335.5(MED13L):c.4319A>G (p.Asp1440Gly) rs971640387 0.00003
NM_015335.5(MED13L):c.3644C>G (p.Thr1215Ser) rs763041697 0.00002
NM_015335.5(MED13L):c.565A>C (p.Ile189Leu) rs1477471791 0.00002
NM_015335.5(MED13L):c.5986A>G (p.Ile1996Val) rs1272594944 0.00002
NM_015335.5(MED13L):c.2282A>G (p.His761Arg) rs745882136 0.00001
NM_015335.5(MED13L):c.2330C>G (p.Ser777Cys) rs1879044151 0.00001
NM_015335.5(MED13L):c.2918G>A (p.Arg973Gln) rs1280691679 0.00001
NM_015335.5(MED13L):c.4328C>A (p.Ala1443Asp) rs377383459 0.00001
NM_015335.5(MED13L):c.4576C>A (p.Pro1526Thr) rs752521430 0.00001
NM_015335.5(MED13L):c.4873A>G (p.Arg1625Gly) rs769363083 0.00001
NM_015335.5(MED13L):c.4907C>T (p.Thr1636Ile) rs140287114 0.00001
NM_015335.5(MED13L):c.5603A>C (p.Lys1868Thr) rs565360797 0.00001
NM_015335.5(MED13L):c.6347C>T (p.Ser2116Leu) rs774432060 0.00001
NM_015335.5(MED13L):c.10G>A (p.Ala4Thr) rs1424018799
NM_015335.5(MED13L):c.115G>C (p.Gly39Arg)
NM_015335.5(MED13L):c.1192A>C (p.Thr398Pro) rs777722490
NM_015335.5(MED13L):c.128G>C (p.Cys43Ser)
NM_015335.5(MED13L):c.1338A>C (p.Gln446His) rs753979653
NM_015335.5(MED13L):c.1406C>T (p.Thr469Ile) rs1879225668
NM_015335.5(MED13L):c.1543T>G (p.Ser515Ala) rs777986630
NM_015335.5(MED13L):c.1600A>G (p.Arg534Gly)
NM_015335.5(MED13L):c.1649C>T (p.Ser550Phe) rs1236040665
NM_015335.5(MED13L):c.1847C>T (p.Ala616Val)
NM_015335.5(MED13L):c.19T>C (p.Trp7Arg)
NM_015335.5(MED13L):c.2077C>A (p.Leu693Ile)
NM_015335.5(MED13L):c.2479C>T (p.Pro827Ser) rs2499891605
NM_015335.5(MED13L):c.2530C>T (p.Leu844Phe) rs1361705924
NM_015335.5(MED13L):c.2674G>C (p.Val892Leu) rs1169537877
NM_015335.5(MED13L):c.3033C>G (p.Asp1011Glu) rs1878087028
NM_015335.5(MED13L):c.3128C>A (p.Thr1043Asn)
NM_015335.5(MED13L):c.3229A>G (p.Thr1077Ala) rs1592924207
NM_015335.5(MED13L):c.3524A>G (p.Asn1175Ser) rs2499856443
NM_015335.5(MED13L):c.3552G>C (p.Leu1184Phe) rs2499856340
NM_015335.5(MED13L):c.3597G>T (p.Arg1199Ser)
NM_015335.5(MED13L):c.3689A>G (p.Gln1230Arg) rs1878042874
NM_015335.5(MED13L):c.3700A>G (p.Thr1234Ala) rs140989788
NM_015335.5(MED13L):c.3757A>G (p.Thr1253Ala)
NM_015335.5(MED13L):c.3932A>G (p.Asn1311Ser) rs2499854439
NM_015335.5(MED13L):c.4147C>T (p.Pro1383Ser) rs2499839734
NM_015335.5(MED13L):c.4296A>T (p.Glu1432Asp)
NM_015335.5(MED13L):c.4300G>A (p.Ala1434Thr) rs1363042572
NM_015335.5(MED13L):c.4387G>A (p.Gly1463Arg) rs1555243607
NM_015335.5(MED13L):c.4414G>A (p.Ala1472Thr) rs749844719
NM_015335.5(MED13L):c.4495C>T (p.Leu1499Phe) rs2499831063
NM_015335.5(MED13L):c.4621A>C (p.Thr1541Pro) rs1204058870
NM_015335.5(MED13L):c.4784G>A (p.Gly1595Asp) rs2499826701
NM_015335.5(MED13L):c.4817G>A (p.Gly1606Glu) rs938023282
NM_015335.5(MED13L):c.4867G>T (p.Ala1623Ser) rs1877454199
NM_015335.5(MED13L):c.4905C>A (p.Asp1635Glu) rs2499826129
NM_015335.5(MED13L):c.5005G>A (p.Asp1669Asn) rs2499823119
NM_015335.5(MED13L):c.5009G>C (p.Ser1670Thr) rs1442810819
NM_015335.5(MED13L):c.5029G>T (p.Val1677Phe) rs1877399404
NM_015335.5(MED13L):c.5213A>G (p.Asp1738Gly)
NM_015335.5(MED13L):c.5299C>T (p.His1767Tyr) rs2137264450
NM_015335.5(MED13L):c.5489A>G (p.Tyr1830Cys) rs2499798795
NM_015335.5(MED13L):c.5512T>C (p.Trp1838Arg)
NM_015335.5(MED13L):c.5530A>G (p.Thr1844Ala)
NM_015335.5(MED13L):c.5586C>G (p.Asn1862Lys)
NM_015335.5(MED13L):c.5603A>G (p.Lys1868Arg) rs565360797
NM_015335.5(MED13L):c.5716C>T (p.His1906Tyr) rs1876852244
NM_015335.5(MED13L):c.5773A>G (p.Ser1925Gly) rs752560133
NM_015335.5(MED13L):c.5827C>A (p.Pro1943Thr) rs1555241424
NM_015335.5(MED13L):c.6079G>T (p.Val2027Phe) rs1876393490
NM_015335.5(MED13L):c.6200T>C (p.Val2067Ala)
NM_015335.5(MED13L):c.681G>T (p.Met227Ile) rs768094617
NM_015335.5(MED13L):c.682T>G (p.Ser228Ala) rs1879954912
NM_015335.5(MED13L):c.820+4A>G
NM_015335.5(MED13L):c.839A>G (p.Tyr280Cys) rs2499944016
NM_015335.5(MED13L):c.850T>A (p.Phe284Ile) rs747135110
NM_015335.5(MED13L):c.898A>G (p.Ser300Gly)
NM_015335.5(MED13L):c.92A>G (p.Lys31Arg) rs372265285
NM_015335.5(MED13L):c.986C>T (p.Thr329Ile) rs769022047

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