ClinVar Miner

List of variants reported as likely pathogenic by Center of Excellence for Medical Genomics, Chulalongkorn University

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.15089G>A (p.Arg5030His) rs747155223 0.00002
NM_001182.5(ALDH7A1):c.1061A>G (p.Tyr354Cys) rs1471249688 0.00001
NM_001182.5(ALDH7A1):c.1547A>G (p.Tyr516Cys) rs200102503 0.00001
NM_000138.5(FBN1):c.5699G>T (p.Cys1900Phe) rs794728237
NM_000158.4(GBE1):c.1496T>A (p.Met499Lys)
NM_000252.3(MTM1):c.414_421dup (p.Ala141fs)
NM_000540.3(RYR1):c.11715G>C (p.Gln3905His)
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp) rs104894578
NM_001015048.3(BAG5):c.321_322del (p.Lys108fs)
NM_001040142.2(SCN2A):c.781_782delinsTC (p.Val261Ser)
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser) rs886039469
NM_001165963.4(SCN1A):c.2732T>G (p.Leu911Arg)
NM_001165963.4(SCN1A):c.4924A>G (p.Arg1642Gly)
NM_001182.5(ALDH7A1):c.1439T>C (p.Ile480Thr) rs886059849
NM_001330260.2(SCN8A):c.5360C>A (p.Thr1787Asn) rs1131691830
NM_001367721.1(CASK):c.1837C>T (p.Arg613Ter) rs779508996
NM_001367721.1(CASK):c.764G>A (p.Arg255His) rs587783369
NM_001370658.1(BTD):c.550G>A (p.Gly184Arg)
NM_001605.3(AARS1):c.961G>C (p.Gly321Arg)
NM_002074.5(GNB1):c.326G>A (p.Gly109Glu)
NM_002641.4(PIGA):c.268T>C (p.Tyr90His)
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) rs111854391
NM_016070.4(MRPS23):c.119C>T (p.Pro40Leu) rs772721937
NM_018122.5(DARS2):c.1456C>G (p.Leu486Val)
NM_018122.5(DARS2):c.1702C>T (p.Leu568Phe)
NM_020988.3(GNAO1):c.811A>G (p.Lys271Glu) rs1555508311
NM_030948.6(PHACTR1):c.1278C>G (p.Ile426Met)
NM_139058.3(ARX):c.1552del (p.Ala518fs)
NM_172107.4(KCNQ2):c.836G>A (p.Gly279Asp) rs2145719551

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