ClinVar Miner

List of variants reported by Division of Biology and Genetics, University of Brescia

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000821.7(GGCX):c.1538G>A (p.Arg513Lys) rs575528363 0.00002
NM_001129.5(AEBP1):c.1925T>C (p.Leu642Pro) rs753531562 0.00001
NM_006907.4(PYCR1):c.728A>G (p.His243Arg) rs2041098364 0.00001
NM_007255.3(B4GALT7):c.829G>T (p.Glu277Ter) rs1481659687 0.00001
NM_012200.4(B3GAT3):c.481C>T (p.Arg161Trp) rs765246909 0.00001
NM_012200.4(B3GAT3):c.889C>T (p.Arg297Trp) rs759636773 0.00001
NM_015909.4(NBAS):c.2411A>G (p.Glu804Gly) rs1677547983 0.00001
NM_000089.4(COL1A2):c.299G>A (p.Gly100Asp)
NM_000090.4(COL3A1):c.3779del (p.Arg1260fs)
NM_000093.4(COL5A1):c.3369_3431dup rs1838416489
NM_000821.7(GGCX):c.1609G>T (p.Gly537Ter) rs1691965570
NM_001042545.2(LTBP4):c.1360del (p.Arg454fs) rs1307726290
NM_001292034.3(TAB2):c.1398dup (p.Thr467fs) rs1781524947
NM_001365276.2(TNXB):c.5362del (p.Thr1788fs) rs1778646780
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) rs786204835
NM_006907.4(PYCR1):c.67+2T>A rs2041207320
NM_012463.4(ATP6V0A2):c.1002del (p.Leu335fs) rs1956563926
NM_012463.4(ATP6V0A2):c.535del (p.Gly178_Leu179insTer) rs1956462432
NM_080605.4(B3GALT6):c.227del (p.Ile76fs) rs1638539773
NM_080605.4(B3GALT6):c.766C>T (p.Arg256Trp) rs1638566519
NM_145331.3(MAP3K7):c.737-7A>G rs1776199533

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