ClinVar Miner

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

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.959A>G (p.Asn320Ser) rs1398859175 0.00001
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_004333.6(BRAF):c.1387A>G (p.Ile463Val) rs1562957000
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys) rs397517154

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