ClinVar Miner

List of variants reported as pathogenic by Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00399
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=) rs587779406 0.00011
NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr) rs149390820 0.00006
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu) rs587779409 0.00004
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser) rs587779408 0.00003
NM_024312.5(GNPTAB):c.2354T>G (p.Leu785Trp) rs144060383 0.00002
NM_000147.5(FUCA1):c.790C>T (p.Arg264Ter) rs587779399 0.00001
NM_000308.4(CTSA):c.394G>A (p.Val132Met) rs137854545 0.00001
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro) rs587779410 0.00001
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys) rs587779411 0.00001
NM_000046.3:c.384_386delCTC
NM_000147.5(FUCA1):c.464C>T (p.Ser155Phe) rs587779398
NM_000181.4(GUSB):c.530C>T (p.Thr177Ile) rs587779400
NM_000203.5(IDUA):c.1874A>G (p.Tyr625Cys) rs587779401
NM_000308.4(CTSA):c.230del (p.Pro77fs) rs587779402
NM_000404.2:c.672_673delAT
NM_000404.4(GLB1):c.1188dup (p.Pro397fs) rs587779403
NM_000404.4(GLB1):c.922T>C (p.Phe308Leu) rs587779404
NM_000405.5(GM2A):c.333del (p.Cys112fs) rs587779405
NM_000520.6(HEXA):c.718_719insT (p.Lys240fs) rs587779407
NM_001042432.2(CLN3):c.371_372insT (p.Ser125fs) rs587779397
NM_001909.4:c.486-12G>A
NM_024312.5(GNPTAB):c.3741_3744del (p.Glu1248fs) rs281865022

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