ClinVar Miner

List of variants studied for Moyamoya syndrome by Genomic Research Center,Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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NM_002834.4(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002834.4(PTPN11):c.959A>G (p.Asn320Ser) rs1398859175
NM_004333.6(BRAF):c.1387A>G (p.Ile463Val) rs1562957000
NM_005343.4(HRAS):c.450+139dup rs35613389
NM_006031.6(PCNT):c.3418_3420CTC[1] (p.Leu1141del) rs759470656
NM_006397.2(RNASEH2A):c.290C>T (p.Ser97Phe) rs1457758264
NM_006397.2(RNASEH2A):c.746C>A (p.Ala249Glu) rs758719669
NM_022168.4(IFIH1):c.1738C>T (p.Gln580Ter)
NM_022168.4(IFIH1):c.1793G>A (p.Arg598His) rs200945986
NM_022168.4(IFIH1):c.2035_2036del (p.Leu679fs)
NM_022168.4(IFIH1):c.2459G>C (p.Arg820Pro)
NM_022168.4(IFIH1):c.716dup (p.Met240fs) rs1558875029
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767

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