ClinVar Miner

List of variants reported by Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001922.5(DCT):c.118T>A (p.Cys40Ser) rs370729240 0.00003
NM_015378.4(VPS13D):c.946C>T (p.Arg316Ter) rs758368974 0.00001
GRCh37/hg19 6p24.3(chr6:8023117-8042179)x0
NM_000878.5(IL2RB):c.286C>T (p.Gln96Ter) rs1569044747
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys) rs1555773764
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) rs1564493599
NM_001822.7(CHN1):c.661T>C (p.Tyr221His)
NM_001922.5(DCT):c.1307_1320del (p.Phe435_Phe436insTer) rs1882493359
NM_001922.5(DCT):c.183C>G (p.Cys61Trp) rs1885297366
NM_002860.4(ALDH18A1):c.1499G>T (p.Gly500Val) rs1194593234
NM_015378.4(VPS13D):c.12416C>T (p.Ala4139Val) rs868354311
NM_201280.3(BLOC1S5):c.345del (p.Val116fs) rs1763106978
NM_212550.5(BLOC1S3):c.338_341del (p.Leu113fs) rs1568469902
NM_212550.5(BLOC1S3):c.385_403del (p.Ser129fs) rs1969482515
NM_212550.5(BLOC1S3):c.444_467del (p.Gln150_Ala157del) rs754841982
Single allele

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