ClinVar Miner

List of variants reported as likely pathogenic by Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital

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Total variants: 34
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HGVS dbSNP
NM_000019.4(ACAT1):c.653C>T (p.Ser218Phe) rs879255505
NM_000044.6(AR):c.1685T>C (p.Ile562Thr) rs886041050
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser) rs72659319
NM_000095.3(COMP):c.1126G>T (p.Asp376Tyr) rs1555791556
NM_000216.4(ANOS1):c.145T>C (p.Cys49Arg) rs1057520209
NM_000216.4(ANOS1):c.1904A>C (p.Gln635Pro) rs1057519418
NM_000216.4(ANOS1):c.255+5G>A rs773138384
NM_000348.4(SRD5A2):c.725A>G (p.Tyr242Cys) rs1553323036
NM_000455.5(STK11):c.541A>G (p.Asn181Asp) rs886037926
NM_000455.5(STK11):c.542A>G (p.Asn181Ser) rs886037859
NM_000455.5(STK11):c.709G>T (p.Asp237Tyr) rs878853247
NM_000475.5(NR0B1):c.848A>C (p.Gln283Pro) rs1060499835
NM_000531.6(OTC):c.254T>C (p.Ile85Thr) rs878853245
NM_000781.3(CYP11A1):c.968T>A (p.Met323Lys) rs886041121
NM_001352514.2(HLCS):c.1985G>A (p.Ser662Asn) rs773398782
NM_001354712.2(THRB):c.1351T>G (p.Phe451Val) rs1057519028
NM_002693.2(POLG):c.[2693T>C];[924G>T]
NM_003060.4(SLC22A5):c.659A>T (p.Glu220Val) rs878853249
NM_003140.3(SRY):c.227G>T (p.Arg76Leu) rs1057519627
NM_003482.3(KMT2D):c.125C>T (p.Ser42Phe) rs1555198886
NM_004380.3(CREBBP):c.4134-1G>T rs886041048
NM_004493.3(HSD17B10):c.592C>A (p.Pro198Thr) rs886037927
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp) rs886039769
NM_005921.2(MAP3K1):c.1923G>A (p.Met641Ile) rs886041049
NM_014009.4(FOXP3):c.398C>T (p.Pro133Leu) rs782511378
NM_014251.3(SLC25A13):c.1505C>T (p.Pro502Leu) rs139149160
NM_017662.5(TRPM6):c.2495A>G (p.Tyr832Cys) rs1060499646
NM_017780.4(CHD7):c.5401C>A (p.His1801Asn) rs1131692039
NM_021044.4(DHH):c.1027T>C (p.Cys343Arg) rs867798393
NM_021951.3(DMRT1):c.332G>T (p.Arg111Met) rs1057519638
NM_023073.3(CPLANE1):c.[2080A>G];[6968A>C]
NM_030582.4(COL18A1):c.2153G>T (p.Gly718Val) rs1114167359
NM_144773.3(PROKR2):c.97T>C (p.Tyr33His) rs886037916
NM_176824.3(BBS7):c.1891-2A>C rs1057519027

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