ClinVar Miner

List of variants in gene MED23 reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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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.3963A>T (p.Leu1321Phe) rs755207439 0.00003
NM_004830.4(MED23):c.3980T>G (p.Leu1327Arg) rs751590798 0.00001
NM_004830.4(MED23):c.1078-6T>G
NM_004830.4(MED23):c.1708T>G (p.Leu570Val) rs1775691162
NM_004830.4(MED23):c.2176A>G (p.Asn726Asp) rs1775354988
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

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