ClinVar Miner

List of variants reported as uncertain significance for Osteopathia striata with cranial sclerosis

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_152424.4(AMER1):c.85G>A (p.Ala29Thr) rs138399473 0.00183
NM_152424.4(AMER1):c.171G>T (p.Met57Ile) rs965178548 0.00001
NM_152424.4(AMER1):c.2029T>C (p.Ser677Pro) rs201053898 0.00001
NM_152424.4(AMER1):c.3130A>G (p.Met1044Val) rs369116388 0.00001
NM_152424.4(AMER1):c.1073G>A (p.Arg358Gln)
NM_152424.4(AMER1):c.1076G>C (p.Ser359Thr)
NM_152424.4(AMER1):c.1305C>G (p.Gly435=) rs761740157
NM_152424.4(AMER1):c.1460T>A (p.Leu487Gln)
NM_152424.4(AMER1):c.2048C>G (p.Ser683Ter) rs1930237390
NM_152424.4(AMER1):c.2363G>A (p.Cys788Tyr) rs1269339307
NM_152424.4(AMER1):c.2875C>A (p.Pro959Thr)
NM_152424.4(AMER1):c.3010T>C (p.Ser1004Pro)
NM_152424.4(AMER1):c.3266G>C (p.Arg1089Thr)
NM_152424.4(AMER1):c.3286C>T (p.Gln1096Ter)
NM_152424.4(AMER1):c.3328T>A (p.Ser1110Thr) rs1930205301
NM_152424.4(AMER1):c.3369C>G (p.Ser1123Arg)
NM_152424.4(AMER1):c.50C>G (p.Ser17Cys)
NM_152424.4(AMER1):c.71C>T (p.Thr24Ile) rs1930297677

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