ClinVar Miner

List of variants reported as uncertain significance by Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.8579A>G (p.Asn2860Ser) rs201294520 0.00006
NM_014251.3(SLC25A13):c.1311C>T (p.Cys437=) rs879255502 0.00003
NM_005633.4(SOS1):c.979A>G (p.Ile327Val) rs758546951 0.00002
NM_014251.3(SLC25A13):c.1958A>G (p.Lys653Arg) rs879255501 0.00001
NM_014363.6(SACS):c.9723G>C (p.Glu3241Asp) rs772595501 0.00001
NM_000033.4(ABCD1):c.1743CGT[1] (p.Val583del) rs1557054859
NM_000095.3(COMP):c.1489+2T>A rs1131692038
NM_000540.3(RYR1):c.9356G>A (p.Arg3119His) rs193922833
NM_000781.3(CYP11A1):c.937T>C (p.Phe313Leu) rs1060499732
NM_001015877.2(PHF6):c.113del (p.Lys38fs) rs1057519064
NM_001042492.3(NF1):c.3197+3A>T rs1359512152
NM_001369268.1(ACAN):c.1193T>A (p.Ile398Asn) rs1555454545
NM_001374353.1(GLI2):c.1375G>C (p.Ala459Pro) rs772017351
NM_004551.3(NDUFS3):c.204C>G (p.Ile68Met) rs886044765
NM_005189.3(CBX2):c.264del (p.Cys89fs) rs1057519060
NM_005359.6(SMAD4):c.209A>G (p.Lys70Arg) rs1555685038
NM_014251.3(SLC25A13):c.616-11A>G rs879255503
NM_015665.6(AAAS):c.200C>T (p.Thr67Ile) rs1114167372
NM_015909.4(NBAS):c.2065T>C (p.Leu689=) rs1131692172
NM_023110.3(FGFR1):c.2206T>C (p.Cys736Arg) rs1554546677
NM_030665.4(RAI1):c.1748G>A (p.Ser583Asn) rs1057519065

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