ClinVar Miner

List of variants studied for Genitopatellar syndrome by Baylor Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_012330.4(KAT6B):c.1439C>T (p.Ala480Val) rs749428929 0.00003
NM_012330.4(KAT6B):c.4834C>T (p.Arg1612Cys) rs140992439 0.00003
NM_012330.4(KAT6B):c.1184C>T (p.Ser395Leu) rs1157587933
NM_012330.4(KAT6B):c.1238T>C (p.Ile413Thr) rs1842099343
NM_012330.4(KAT6B):c.3428del (p.Ser1143fs) rs1845712748
NM_012330.4(KAT6B):c.3581del (p.Gln1194fs) rs1564628365
NM_012330.4(KAT6B):c.4053G>C (p.Glu1351Asp) rs1314906622
NM_012330.4(KAT6B):c.4148A>C (p.Asp1383Ala) rs1846099902

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