ClinVar Miner

List of variants reported as likely benign for primary lymphedema by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (85):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565 0.00012
NM_002880.4(RAF1):c.834+598G>A rs375404697 0.00009
NM_001142864.4(PIEZO1):c.640G>A (p.Ala214Thr) rs533369230 0.00001
NM_002880.4(RAF1):c.1150C>G (p.Pro384Ala) rs140788943 0.00001
NM_005429.5(VEGFC):c.781G>A (p.Asp261Asn)
NM_005633.4(SOS1):c.2861A>C (p.Glu954Ala)
NM_005633.4(SOS1):c.3600C>A (p.Asp1200Glu) rs141594736

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