ClinVar Miner

List of variants in gene SGSH reported as uncertain significance by Ambry Genetics

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000199.5(SGSH):c.676G>A (p.Val226Ile) rs145967352 0.00022
NM_000199.5(SGSH):c.1076C>T (p.Ala359Val) rs202150579 0.00020
NM_000199.5(SGSH):c.964A>G (p.Ile322Val) rs151243903 0.00010
NM_000199.5(SGSH):c.781G>A (p.Gly261Ser) rs149248428 0.00007
NM_000199.5(SGSH):c.1301C>T (p.Ala434Val) rs76375023 0.00006
NM_000199.5(SGSH):c.1462G>A (p.Glu488Lys) rs145645179 0.00006
NM_000199.5(SGSH):c.1253G>A (p.Gly418Asp) rs760618916 0.00004
NM_000199.5(SGSH):c.1456G>A (p.Val486Ile) rs764585957 0.00003
NM_000199.5(SGSH):c.585G>C (p.Glu195Asp) rs756193095 0.00003
NM_000199.5(SGSH):c.1052C>T (p.Ala351Val) rs139075692 0.00001
NM_000199.5(SGSH):c.115G>A (p.Ala39Thr) rs773137508 0.00001
NM_000199.5(SGSH):c.523G>A (p.Val175Ile) rs753921560 0.00001
NM_000199.5(SGSH):c.1084T>G (p.Phe362Val) rs1555620294
NM_000199.5(SGSH):c.1304G>T (p.Arg435Leu) rs370528435
NM_000199.5(SGSH):c.1472T>G (p.Leu491Arg)
NM_000199.5(SGSH):c.164G>A (p.Arg55His)
NM_000199.5(SGSH):c.350G>A (p.Arg117His)
NM_000199.5(SGSH):c.433G>A (p.Val145Ile)
NM_000199.5(SGSH):c.508C>G (p.Pro170Ala)
NM_000199.5(SGSH):c.563C>A (p.Pro188His)
NM_000199.5(SGSH):c.778G>A (p.Ala260Thr)
NM_000199.5(SGSH):c.794A>G (p.Asp265Gly)
NM_000199.5(SGSH):c.921A>T (p.Gln307His)
NM_000199.5(SGSH):c.956C>T (p.Thr319Met)

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