ClinVar Miner

List of variants reported as likely pathogenic by SingHealth Duke-NUS Institute of Precision Medicine

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Total variants: 25
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HGVS dbSNP
NM_000019.4(ACAT1):c.1043del (p.Ala348fs) rs1565297769
NM_000027.4(AGA):c.121G>T (p.Glu41Ter) rs1560952256
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994
NM_000181.4(GUSB):c.104C>A (p.Ser35Ter) rs1238361161
NM_000255.4(MMUT):c.1148dup (p.Ser384fs) rs771021560
NM_000263.4(NAGLU):c.309G>A (p.Trp103Ter) rs1567890328
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000284.4(PDHA1):c.300_301dup (p.Cys101fs) rs1569190422
NM_000284.4(PDHA1):c.789_790AG[1] (p.Glu264fs) rs1569191879
NM_001081.3(CUBN):c.10285dup (p.Gln3429fs) rs754704005
NM_001081.3(CUBN):c.5428C>T (p.Arg1810Ter)
NM_001135024.1(PDHX):c.88delT rs1158194122
NM_001358530.2(MOCS1):c.1126A>T (p.Lys376Ter) rs1562085332
NM_001360.2(DHCR7):c.725G>A (p.Arg242His) rs80338857
NM_001370658.1(BTD):c.577del (p.His193fs) rs780874850
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) rs121964954
NM_004453.4(ETFDH):c.380T>A (p.Leu127His) rs121964956
NM_005518.3(HMGCS2):c.1187+1G>C
NM_005957.4(MTHFR):c.1267dup (p.Glu423fs) rs1557761665
NM_015697.8(COQ2):c.590G>A (p.Arg197His) rs121918231
NM_020247.4(COQ8A):c.*72dup rs1558212305
NM_025243.4(SLC19A3):c.111del (p.Tyr38fs) rs1559252723
NM_153006.3(NAGS):c.102_103insAGATCGGAAGA (p.Ala35fs) rs1567941557
NM_199292.3(TH):c.457C>T (p.Arg153Ter) rs771610752
NM_199292.3(TH):c.807_808del (p.Leu270fs) rs1564918287

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