ClinVar Miner

List of variants in gene MED13L reported as uncertain significance for not provided

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Total variants: 19
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HGVS dbSNP
GRCh37/hg19 12q24.21(chr12:116326288-116417238)x3
GRCh37/hg19 12q24.21(chr12:116327565-116409453)x3
GRCh37/hg19 12q24.21(chr12:116414991-116639877)x3
NM_015335.4(MED13L):c.1029G>C (p.Gln343His) rs749587320
NM_015335.4(MED13L):c.1943C>G (p.Pro648Arg) rs1322326599
NM_015335.4(MED13L):c.2333C>T (p.Ala778Val) rs1555247422
NM_015335.4(MED13L):c.3428C>T (p.Ala1143Val) rs763939921
NM_015335.4(MED13L):c.3498G>T (p.Ala1166=) rs200960898
NM_015335.4(MED13L):c.3866C>T (p.Pro1289Leu) rs200187663
NM_015335.4(MED13L):c.4115-7A>T rs1054976642
NM_015335.4(MED13L):c.4224G>T (p.Leu1408Phe) rs1565994535
NM_015335.4(MED13L):c.5732-3C>T rs370245982
NM_015335.4(MED13L):c.656C>T (p.Thr219Met) rs191743300
NM_015335.5(MED13L):c.1855T>G (p.Cys619Gly)
NM_015335.5(MED13L):c.3461A>G (p.Asn1154Ser)
NM_015335.5(MED13L):c.4294G>A (p.Glu1432Lys)
NM_015335.5(MED13L):c.5321T>A (p.Phe1774Tyr) rs1592911270
NM_015335.5(MED13L):c.5921G>A (p.Arg1974Gln)
NM_015335.5(MED13L):c.993A>G (p.Pro331=)

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