ClinVar Miner

List of variants reported as likely pathogenic by Centre for Inherited Metabolic Diseases, Karolinska University Hospital

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Total variants: 25
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HGVS dbSNP
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys) rs745777805
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe) rs387906824
NM_001033044.4(GLUL):c.1075T>G (p.Cys359Gly)
NM_001165963.4(SCN1A):c.1118T>C (p.Leu373Ser)
NM_001165963.4(SCN1A):c.1294G>C (p.Ala432Pro)
NM_001165963.4(SCN1A):c.3850T>C (p.Trp1284Arg) rs796053001
NM_001165963.4(SCN1A):c.434T>G (p.Met145Arg)
NM_001165963.4(SCN1A):c.5308A>T (p.Ile1770Phe)
NM_001257180.2(SLC20A2):c.1703C>T (p.Pro568Leu)
NM_001271.4(CHD2):c.2435T>C (p.Ile812Thr)
NM_001374258.1(BRAF):c.2255C>A (p.Ala752Asp) rs727502904
NM_001378452.1(ITPR1):c.755C>T (p.Thr252Ile)
NM_001378452.1(ITPR1):c.7798A>C (p.Thr2600Pro)
NM_001918.4(DBT):c.5C>T (p.Ala2Val) rs398123672
NM_001918.5(DBT):c.1184C>T (p.Thr395Ile)
NM_002936.6(RNASEH1):c.424G>A (p.Val142Ile) rs766294940
NM_004146.6(NDUFB7):c.113-10C>G
NM_005763.4(AASS):c.395G>A (p.Arg132His)
NM_005763.4(AASS):c.3G>A (p.Met1Ile)
NM_005989.4(AKR1D1):c.797G>A (p.Arg266Gln)
NM_007055.4(POLR3A):c.3858C>A (p.His1286Gln)
NM_013339.4(ALG6):c.250G>A (p.Ala84Thr) rs762643273
NM_017570.5(OPLAH):c.659C>T (p.Ser220Leu)
NM_017882.3(CLN6):c.514T>C (p.Tyr172His)
NM_206933.3(USH2A):c.15017C>T (p.Thr5006Met) rs757676723

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