ClinVar Miner

List of variants reported as likely pathogenic by Molecular Diagnostics Laboratory, Seoul National University Hospital

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_018668.5(VPS33B):c.239+5G>A rs372769808 0.00003
NM_000214.3(JAG1):c.106G>A (p.Glu36Lys)
NM_000214.3(JAG1):c.213_214delinsC (p.Asp72fs)
NM_000214.3(JAG1):c.2210del (p.Gly737fs)
NM_000214.3(JAG1):c.699_700del (p.Ile233fs)
NM_000214.3(JAG1):c.702C>A (p.Cys234Ter)
NM_000214.3(JAG1):c.789_791del (p.Asp263_Lys264delinsGlu)
NM_000292.3(PHKA2):c.1245G>T (p.Glu415Asp) rs1601747985
NM_000292.3(PHKA2):c.405_419delinsTCCTGGCC (p.Asp136fs) rs1601776276
NM_000294.3(PHKG2):c.661G>A (p.Val221Met) rs1596687577
NM_002863.5(PYGL):c.1334T>C (p.Leu445Pro) rs2050437440
NM_002863.5(PYGL):c.1820G>T (p.Gly607Val)
NM_002863.5(PYGL):c.2084G>A (p.Gly695Glu)
NM_002863.5(PYGL):c.2483T>G (p.Val828Gly)
NM_002863.5(PYGL):c.472T>C (p.Tyr158His)
NM_003072.5(SMARCA4):c.2747A>G (p.Asn916Ser) rs2146419846
NM_003742.4(ABCB11):c.151-9T>G
NM_003742.4(ABCB11):c.3812T>A (p.Ile1271Asn)
NM_006005.3(WFS1):c.1544_1545insA (p.Phe515fs)
NM_018668.5(VPS33B):c.621G>A (p.Trp207Ter)

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