ClinVar Miner

List of variants reported by KK Women’s and Children’s Hospital

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000222.3(KIT):c.2000T>G (p.Leu667Arg) rs1560419312
NM_001039591.3(USP9X):c.3797A>C (p.Lys1266Thr) rs765979381
NM_001042492.3(NF1):c.5675T>A (p.Leu1892Ter) rs2069450324
NM_001368894.2(PAX6):c.1018dup (p.Tyr340fs)
NM_001368894.2(PAX6):c.1277_1284dup (p.Ser429fs)
NM_002074.5(GNB1):c.230G>C (p.Gly77Ala) rs1135401746
NM_004297.4(GNA14):c.817G>C (p.Asp273His)
NM_006121.4(KRT1):c.564C>G (p.Asn188Lys) rs59429455
NM_006147.4(IRF6):c.113T>C (p.Ile38Thr) rs1060499555

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