ClinVar Miner

List of variants studied for Noonan syndrome by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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_006767.4(LZTR1):c.1904C>T (p.Pro635Leu) rs148677674 0.00077
NM_005633.4(SOS1):c.806T>C (p.Met269Thr) rs137852813
NM_006767.4(LZTR1):c.370G>A (p.Val124Ile)
NM_006939.4(SOS2):c.3303T>G (p.Ser1101Arg) rs1317870927

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