ClinVar Miner

List of variants in gene MED12 reported as likely benign by Ambry Genetics

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Gene type:
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Total variants: 37
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HGVS dbSNP
NM_005120.2(MED12):c.1140C>T (p.His380=) rs753714929
NM_005120.2(MED12):c.1167G>A (p.Lys389=) rs374324656
NM_005120.2(MED12):c.1203G>A (p.Pro401=)
NM_005120.2(MED12):c.1290G>A (p.Glu430=) rs1556334791
NM_005120.2(MED12):c.2118C>T (p.Val706=) rs1346228842
NM_005120.2(MED12):c.2220C>T (p.Ile740=) rs370195616
NM_005120.2(MED12):c.2271G>A (p.Leu757=)
NM_005120.2(MED12):c.2571G>A (p.Thr857=)
NM_005120.2(MED12):c.2613G>A (p.Gln871=) rs372344160
NM_005120.2(MED12):c.2982C>T (p.Ser994=) rs886039139
NM_005120.2(MED12):c.3009C>A (p.Thr1003=) rs375493995
NM_005120.2(MED12):c.3204C>T (p.Pro1068=) rs201807437
NM_005120.2(MED12):c.3222C>T (p.Ile1074=) rs374156594
NM_005120.2(MED12):c.3357C>T (p.Val1119=) rs773679943
NM_005120.2(MED12):c.381G>A (p.Thr127=) rs202125318
NM_005120.2(MED12):c.3942T>C (p.Ser1314=) rs3810670
NM_005120.2(MED12):c.3948G>A (p.Gln1316=) rs1359267668
NM_005120.2(MED12):c.4041T>C (p.Ile1347=) rs769884032
NM_005120.2(MED12):c.4161C>T (p.Ile1387=) rs776947543
NM_005120.2(MED12):c.4179A>C (p.Ser1393=) rs376058351
NM_005120.2(MED12):c.438A>G (p.Leu146=) rs35068602
NM_005120.2(MED12):c.4488C>T (p.Arg1496=) rs531754497
NM_005120.2(MED12):c.4650C>T (p.Ser1550=) rs886039075
NM_005120.2(MED12):c.492T>C (p.Cys164=) rs886039163
NM_005120.2(MED12):c.5103T>C (p.Ser1701=) rs762801267
NM_005120.2(MED12):c.5267T>C (p.Leu1756Pro)
NM_005120.2(MED12):c.5442G>C (p.Val1814=) rs773540568
NM_005120.2(MED12):c.5711C>T (p.Ala1904Val) rs200663107
NM_005120.2(MED12):c.5805C>T (p.Ser1935=) rs201608537
NM_005120.2(MED12):c.6168A>G (p.Gln2056=) rs745565325
NM_005120.2(MED12):c.6201A>G (p.Gln2067=) rs375793297
NM_005120.2(MED12):c.6204G>A (p.Gln2068=)
NM_005120.2(MED12):c.6226_6228delCAG (p.Gln2076del) rs757160341
NM_005120.2(MED12):c.6256_6258delCAG (p.Gln2086del) rs786200971
NM_005120.2(MED12):c.6276_6278dup (p.Gln2115_His2116insGln) rs748394417
NM_005120.2(MED12):c.6285A>G (p.Gln2095=) rs794727673
NM_005120.2(MED12):c.6285_6290dup (p.Gln2115_His2116insGlnGln) rs761195801

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