ClinVar Miner

List of variants studied for Li-Ghorbani-Weisz-Hubshman syndrome

Included ClinVar conditions (1):
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_032188.3(KAT8):c.55G>C (p.Gly19Arg) rs899031653 0.00002
GRCh38/hg38 16p11.2(chr16:31113127-31122901)
NM_032188.3(KAT8):c.269A>G (p.Tyr90Cys) rs2057483219
NM_032188.3(KAT8):c.275A>G (p.His92Arg) rs2143966219
NM_032188.3(KAT8):c.293G>A (p.Arg98Gln) rs748699921
NM_032188.3(KAT8):c.523A>G (p.Lys175Glu) rs2057538050
NM_032188.3(KAT8):c.524A>C (p.Lys175Thr) rs2143985614
NM_032188.3(KAT8):c.543G>C (p.Lys181Asn) rs2057538160
NM_032188.3(KAT8):c.649A>C (p.Met217Leu)
NM_032188.3(KAT8):c.725G>C (p.Arg242Pro) rs2057547080

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