ClinVar Miner

List of variants in gene RAB3GAP2 studied for Warburg micro syndrome 2

Included ClinVar conditions (2):
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Total variants: 34
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HGVS dbSNP
NM_012414.4(RAB3GAP2):c.1215C>T (p.Phe405=) rs762485949
NM_012414.4(RAB3GAP2):c.1258C>T (p.Arg420Cys) rs188522997
NM_012414.4(RAB3GAP2):c.1393C>T (p.Leu465Phe)
NM_012414.4(RAB3GAP2):c.1396G>C (p.Val466Leu)
NM_012414.4(RAB3GAP2):c.1434G>A (p.Trp478Ter) rs587777168
NM_012414.4(RAB3GAP2):c.1511T>C (p.Ile504Thr) rs1553276414
NM_012414.4(RAB3GAP2):c.1580C>T (p.Pro527Leu)
NM_012414.4(RAB3GAP2):c.1600A>G (p.Thr534Ala) rs886046021
NM_012414.4(RAB3GAP2):c.1631+6G>A
NM_012414.4(RAB3GAP2):c.180T>A (p.Pro60=) rs138809681
NM_012414.4(RAB3GAP2):c.2088A>G (p.Thr696=) rs2577126
NM_012414.4(RAB3GAP2):c.2168T>A (p.Val723Glu) rs150643803
NM_012414.4(RAB3GAP2):c.2207dup (p.Leu737fs) rs1553275687
NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe) rs139337049
NM_012414.4(RAB3GAP2):c.2417-7C>T rs973067244
NM_012414.4(RAB3GAP2):c.2587A>G (p.Thr863Ala) rs12045447
NM_012414.4(RAB3GAP2):c.2624C>G (p.Ser875Cys)
NM_012414.4(RAB3GAP2):c.2667T>G (p.Leu889=) rs145550355
NM_012414.4(RAB3GAP2):c.2810G>A (p.Gly937Asp)
NM_012414.4(RAB3GAP2):c.3085G>T (p.Glu1029Ter) rs587777170
NM_012414.4(RAB3GAP2):c.310T>C (p.Trp104Arg) rs1553278790
NM_012414.4(RAB3GAP2):c.3112A>G (p.Ile1038Val) rs144779240
NM_012414.4(RAB3GAP2):c.3171G>A (p.Met1057Ile) rs368434757
NM_012414.4(RAB3GAP2):c.3183C>G (p.Phe1061Leu) rs760241426
NM_012414.4(RAB3GAP2):c.3637C>T (p.Arg1213Ter) rs587777169
NM_012414.4(RAB3GAP2):c.3805G>A (p.Val1269Ile) rs778851334
NM_012414.4(RAB3GAP2):c.3924G>C (p.Thr1308=) rs73098539
NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val) rs59190330
NM_012414.4(RAB3GAP2):c.4161C>T (p.Ala1387=) rs772430156
NM_012414.4(RAB3GAP2):c.467T>C (p.Ile156Thr)
NM_012414.4(RAB3GAP2):c.499_507del (p.Phe167_Thr169del) rs1553278569
NM_012414.4(RAB3GAP2):c.713-2A>G rs797045103
NM_012414.4(RAB3GAP2):c.774A>G (p.Leu258=) rs576411922
NM_012414.4(RAB3GAP2):c.812-6T>A rs575925720

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