List of variants in gene MED23 studied for autosomal recessive disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_004830.4(MED23):c.4080G>T (p.Val1360=)	rs138742804	0.00372
NM_004830.4(MED23):c.235C>T (p.Leu79Phe)	rs151031376	0.00019
NM_004830.4(MED23):c.367C>T (p.Arg123Trp)	rs374403178	0.00006
NM_004830.4(MED23):c.2417T>C (p.Ile806Thr)	rs1416942996	0.00003
NM_004830.4(MED23):c.3963A>T (p.Leu1321Phe)	rs755207439	0.00003
NM_004830.4(MED23):c.2832dup (p.Val945fs)	rs771485728	0.00002
NM_004830.4(MED23):c.1832G>A (p.Arg611Gln)	rs370667926	0.00001
NM_004830.4(MED23):c.3353C>G (p.Ser1118Ter)	rs769471341	0.00001
NM_004830.4(MED23):c.382G>A (p.Gly128Arg)	rs569927513	0.00001
NM_004830.4(MED23):c.3980T>G (p.Leu1327Arg)	rs751590798	0.00001
NM_004830.4(MED23):c.3982C>T (p.Arg1328Cys)	rs766478634	0.00001
NM_004830.4(MED23):c.1078-6T>G
NM_004830.4(MED23):c.1181C>T (p.Pro394Leu)	rs1775982467
NM_004830.4(MED23):c.1708T>G (p.Leu570Val)	rs1775691162
NM_004830.4(MED23):c.1919A>G (p.Gln640Arg)	rs745997916
NM_004830.4(MED23):c.2176A>G (p.Asn726Asp)	rs1775354988
NM_004830.4(MED23):c.224del (p.Arg75fs)	rs2114781844
NM_004830.4(MED23):c.2368_2371del (p.Leu790fs)	rs760262127
NM_004830.4(MED23):c.2528T>C (p.Leu843Pro)
NM_004830.4(MED23):c.2998C>A (p.Arg1000Ser)	rs866726564
NM_004830.4(MED23):c.3545A>C (p.Glu1182Ala)	rs1774628358
NM_004830.4(MED23):c.3566G>T (p.Arg1189Leu)	rs146599947
NM_004830.4(MED23):c.3638A>G (p.His1213Arg)	rs527236035
NM_004830.4(MED23):c.3988C>T (p.Arg1330Ter)	rs527236036
NM_004830.4(MED23):c.479T>C (p.Leu160Pro)	rs786205583
NM_004830.4(MED23):c.506A>G (p.Tyr169Cys)	rs2114757071
NM_004830.4(MED23):c.539C>A (p.Ala180Asp)	rs2114756866
NM_004830.4(MED23):c.670C>G (p.Arg224Gly)	rs1293450628

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