ClinVar Miner

List of variants studied for Warburg micro syndrome by Invitae

Included ClinVar conditions (6):
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Minimum conflict level:
ClinVar version:
Total variants: 49
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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.1373C>A (p.Pro458Gln)
NM_012414.4(RAB3GAP2):c.1393C>T (p.Leu465Phe) rs1444884870
NM_012414.4(RAB3GAP2):c.1396G>C (p.Val466Leu) rs753527336
NM_012414.4(RAB3GAP2):c.1511T>C (p.Ile504Thr) rs1553276414
NM_012414.4(RAB3GAP2):c.1580C>T (p.Pro527Leu) rs149563712
NM_012414.4(RAB3GAP2):c.1600A>G (p.Thr534Ala) rs886046021
NM_012414.4(RAB3GAP2):c.1631+6G>A rs780059285
NM_012414.4(RAB3GAP2):c.1709A>G (p.Asn570Ser) rs143286302
NM_012414.4(RAB3GAP2):c.1779+7G>A rs111345353
NM_012414.4(RAB3GAP2):c.180T>A (p.Pro60=) rs138809681
NM_012414.4(RAB3GAP2):c.2008C>G (p.Leu670Val) rs201613456
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.2290C>T (p.Leu764Phe) rs139337049
NM_012414.4(RAB3GAP2):c.2304G>A (p.Leu768=) rs140146408
NM_012414.4(RAB3GAP2):c.2403G>A (p.Leu801=) rs1571881674
NM_012414.4(RAB3GAP2):c.2417-7C>T rs973067244
NM_012414.4(RAB3GAP2):c.2564T>A (p.Met855Lys)
NM_012414.4(RAB3GAP2):c.2587A>G (p.Thr863Ala) rs12045447
NM_012414.4(RAB3GAP2):c.2624C>G (p.Ser875Cys) rs1571880860
NM_012414.4(RAB3GAP2):c.2667T>G (p.Leu889=) rs145550355
NM_012414.4(RAB3GAP2):c.2810G>A (p.Gly937Asp) rs150834670
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.3294T>C (p.Ser1098=) rs368788359
NM_012414.4(RAB3GAP2):c.3390G>A (p.Ala1130=) rs140377995
NM_012414.4(RAB3GAP2):c.3400G>C (p.Val1134Leu) rs138489010
NM_012414.4(RAB3GAP2):c.3616G>T (p.Asp1206Tyr) rs139407102
NM_012414.4(RAB3GAP2):c.3702C>T (p.Val1234=) rs137897304
NM_012414.4(RAB3GAP2):c.3805G>A (p.Val1269Ile) rs778851334
NM_012414.4(RAB3GAP2):c.3842A>G (p.Tyr1281Cys) rs34081806
NM_012414.4(RAB3GAP2):c.3924G>C (p.Thr1308=) rs73098539
NM_012414.4(RAB3GAP2):c.3966A>G (p.Lys1322=) rs150226729
NM_012414.4(RAB3GAP2):c.3991C>A (p.Leu1331Ile) rs149842844
NM_012414.4(RAB3GAP2):c.39C>T (p.Asp13=) rs145667920
NM_012414.4(RAB3GAP2):c.4026+10A>G rs746827542
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) rs749444902
NM_012414.4(RAB3GAP2):c.46G>A (p.Ala16Thr) rs201514595
NM_012414.4(RAB3GAP2):c.503A>G (p.Tyr168Cys)
NM_012414.4(RAB3GAP2):c.597C>T (p.Pro199=) rs371029254
NM_012414.4(RAB3GAP2):c.774A>G (p.Leu258=) rs576411922
NM_012414.4(RAB3GAP2):c.812-6T>A rs575925720
NM_012414.4(RAB3GAP2):c.938C>T (p.Thr313Ile) rs74139292

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