ClinVar Miner

List of variants in gene MED13L reported as benign

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Gene type:
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Total variants: 38
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HGVS dbSNP
GRCh37/hg19 12q24.21(chr12:116498873-116536921)x1
GRCh37/hg19 12q24.21(chr12:116498873-116621185)x1
GRCh37/hg19 12q24.21(chr12:116526507-116528428)x1
GRCh37/hg19 12q24.21(chr12:116526507-116536921)x1
GRCh37/hg19 12q24.21(chr12:116526663-116528428)x1
NM_015335.4(MED13L):c.1008A>C (p.Leu336=) rs150782464
NM_015335.4(MED13L):c.1095G>A (p.Ser365=) rs144327790
NM_015335.4(MED13L):c.1215T>G (p.Pro405=) rs147976467
NM_015335.4(MED13L):c.1283A>G (p.His428Arg) rs144410580
NM_015335.4(MED13L):c.1590C>T (p.Ala530=) rs114269768
NM_015335.4(MED13L):c.1725G>A (p.Ser575=) rs77263223
NM_015335.4(MED13L):c.1863T>C (p.Ile621=) rs61748071
NM_015335.4(MED13L):c.1904G>A (p.Ser635Asn) rs144457722
NM_015335.4(MED13L):c.2056A>C (p.Lys686Gln) rs139048741
NM_015335.4(MED13L):c.2778C>T (p.Pro926=) rs144357346
NM_015335.4(MED13L):c.3069G>A (p.Thr1023=) rs780149328
NM_015335.4(MED13L):c.3450C>T (p.Pro1150=) rs78561507
NM_015335.4(MED13L):c.3512A>G (p.Lys1171Arg) rs147863200
NM_015335.4(MED13L):c.3758C>T (p.Thr1253Ile) rs148416895
NM_015335.4(MED13L):c.40C>T (p.Leu14=) rs148454293
NM_015335.4(MED13L):c.4467C>T (p.Ser1489=) rs141892892
NM_015335.4(MED13L):c.4593C>T (p.Thr1531=) rs138774472
NM_015335.4(MED13L):c.4744T>A (p.Ser1582Thr) rs150222863
NM_015335.4(MED13L):c.4758G>A (p.Pro1586=) rs141818426
NM_015335.4(MED13L):c.4767G>A (p.Ser1589=) rs573917510
NM_015335.4(MED13L):c.579T>C (p.Asn193=) rs11067880
NM_015335.4(MED13L):c.5955C>T (p.Leu1985=) rs113830913
NM_015335.4(MED13L):c.6068-8C>T rs61936939
NM_015335.4(MED13L):c.73-5del rs1593196291
NM_015335.4(MED13L):c.771C>T (p.Asp257=) rs148136300
NM_015335.4(MED13L):c.948G>A (p.Lys316=) rs61748072
NM_015335.5(MED13L):c.1773G>A (p.Gln591=)
NM_015335.5(MED13L):c.2239-7T>C
NM_015335.5(MED13L):c.3070T>C (p.Leu1024=)
NM_015335.5(MED13L):c.3429G>A (p.Ala1143=)
NM_015335.5(MED13L):c.5928T>C (p.Thr1976=)
NM_015335.5(MED13L):c.6354C>T (p.Pro2118=)
NM_015335.5(MED13L):c.73-10_73-9dup

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