List of variants in gene MED23 studied for MED23-related disorder

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_004830.4(MED23):c.4080G>T (p.Val1360=)	rs138742804	0.00342
NM_004830.4(MED23):c.3742G>A (p.Val1248Ile)	rs144470678	0.00150
NM_004830.4(MED23):c.459C>T (p.Ser153=)	rs141237898	0.00039
NM_004830.4(MED23):c.96T>C (p.Asp32=)	rs146536905	0.00020
NM_004830.4(MED23):c.3228C>T (p.Val1076=)	rs143889870	0.00011
NM_004830.4(MED23):c.1077+5G>A	rs765447949	0.00003
NM_004830.4(MED23):c.2065T>C (p.Leu689=)	rs763009827	0.00003
NM_004830.4(MED23):c.1493C>T (p.Thr498Ile)	rs1480286524	0.00001
NM_004830.4(MED23):c.3353C>G (p.Ser1118Ter)	rs769471341	0.00001
NM_004830.4(MED23):c.3230A>G (p.Asp1077Gly)
NM_004830.4(MED23):c.3281dup (p.Asn1095fs)	rs1204042896
NM_004830.4(MED23):c.40-7_40-5dup	rs200823095

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