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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_015335.5(MED13L):c.650A>C (p.Asn217Thr)	rs772021396	0.00010
NM_015335.5(MED13L):c.3068C>T (p.Thr1023Met)	rs747244814	0.00006
NM_015335.5(MED13L):c.3155G>A (p.Arg1052Gln)	rs977444793	0.00001
NM_015335.5(MED13L):c.6013A>T (p.Ile2005Phe)	rs1876518341	0.00001
GRCh37/hg19 12q24.21(chr12:116463228-116535323)
NM_015335.5(MED13L):c.-9dup	rs2138617119
NM_015335.5(MED13L):c.1271C>T (p.Ser424Phe)
NM_015335.5(MED13L):c.1300_1302del (p.Cys434del)	rs746994172
NM_015335.5(MED13L):c.1388C>A (p.Ala463Asp)	rs2137386497
NM_015335.5(MED13L):c.1390TCT[1] (p.Ser465del)	rs1566007803
NM_015335.5(MED13L):c.1444A>G (p.Arg482Gly)	rs1879223663
NM_015335.5(MED13L):c.190C>G (p.Leu64Val)	rs2500017004
NM_015335.5(MED13L):c.4621A>G (p.Thr1541Ala)
NM_015335.5(MED13L):c.4955+16A>T	rs2499825649
NM_015335.5(MED13L):c.6311C>T (p.Ala2104Val)	rs1177608611

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