ClinVar Miner

List of variants reported as uncertain significance for Warburg micro syndrome 2 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Total variants: 12
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HGVS dbSNP
NM_012414.3(RAB3GAP2):c.1258C>T (p.Arg420Cys) rs188522997
NM_012414.3(RAB3GAP2):c.1396G>C (p.Val466Leu)
NM_012414.3(RAB3GAP2):c.1511T>C (p.Ile504Thr) rs1553276414
NM_012414.3(RAB3GAP2):c.1580C>T (p.Pro527Leu)
NM_012414.3(RAB3GAP2):c.180T>A (p.Pro60=) rs138809681
NM_012414.3(RAB3GAP2):c.2290C>T (p.Leu764Phe) rs139337049
NM_012414.3(RAB3GAP2):c.310T>C (p.Trp104Arg) rs1553278790
NM_012414.3(RAB3GAP2):c.3112A>G (p.Ile1038Val) rs144779240
NM_012414.3(RAB3GAP2):c.3171G>A (p.Met1057Ile) rs368434757
NM_012414.3(RAB3GAP2):c.3183C>G (p.Phe1061Leu) rs760241426
NM_012414.3(RAB3GAP2):c.3805G>A (p.Val1269Ile) rs778851334
NM_012414.3(RAB3GAP2):c.467T>C (p.Ile156Thr)

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