ClinVar Miner

List of variants in gene RAB33B studied for Smith-McCort dysplasia 2

Included ClinVar conditions (1):
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Gene type:
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Total variants: 71
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HGVS dbSNP
NM_031296.3(RAB33B):c.*1077G>A rs115582784
NM_031296.3(RAB33B):c.*1157T>G
NM_031296.3(RAB33B):c.*118T>G rs886059077
NM_031296.3(RAB33B):c.*1235G>A
NM_031296.3(RAB33B):c.*1303C>T rs4074940
NM_031296.3(RAB33B):c.*1310G>A rs886059082
NM_031296.3(RAB33B):c.*1322C>G
NM_031296.3(RAB33B):c.*1403C>A rs75661332
NM_031296.3(RAB33B):c.*1455A>G
NM_031296.3(RAB33B):c.*146T>A
NM_031296.3(RAB33B):c.*161C>T
NM_031296.3(RAB33B):c.*1751G>T rs114169513
NM_031296.3(RAB33B):c.*1819A>G rs557693738
NM_031296.3(RAB33B):c.*1925A>G
NM_031296.3(RAB33B):c.*1949A>C
NM_031296.3(RAB33B):c.*1976A>G rs886059083
NM_031296.3(RAB33B):c.*1994T>A rs886059084
NM_031296.3(RAB33B):c.*1A>G
NM_031296.3(RAB33B):c.*2026G>A rs144602972
NM_031296.3(RAB33B):c.*2130G>A
NM_031296.3(RAB33B):c.*2132T>G rs575262316
NM_031296.3(RAB33B):c.*219A>G rs886059078
NM_031296.3(RAB33B):c.*2271A>C
NM_031296.3(RAB33B):c.*2327G>A rs755193519
NM_031296.3(RAB33B):c.*2355T>A
NM_031296.3(RAB33B):c.*2359T>A
NM_031296.3(RAB33B):c.*2391C>T
NM_031296.3(RAB33B):c.*2522A>C
NM_031296.3(RAB33B):c.*2548T>G
NM_031296.3(RAB33B):c.*254A>G rs78192594
NM_031296.3(RAB33B):c.*2599A>G rs886059085
NM_031296.3(RAB33B):c.*2651C>A rs3088313
NM_031296.3(RAB33B):c.*2722T>G
NM_031296.3(RAB33B):c.*2754C>G
NM_031296.3(RAB33B):c.*425T>C
NM_031296.3(RAB33B):c.*494A>C rs886059079
NM_031296.3(RAB33B):c.*513C>T
NM_031296.3(RAB33B):c.*543C>T rs79952078
NM_031296.3(RAB33B):c.*576T>C
NM_031296.3(RAB33B):c.*590T>C rs78607198
NM_031296.3(RAB33B):c.*595G>A rs13137997
NM_031296.3(RAB33B):c.*632A>G rs886059080
NM_031296.3(RAB33B):c.*701G>T rs187434569
NM_031296.3(RAB33B):c.*764G>A rs886059081
NM_031296.3(RAB33B):c.*776C>T rs77490600
NM_031296.3(RAB33B):c.*780T>C
NM_031296.3(RAB33B):c.*924G>A
NM_031296.3(RAB33B):c.-36C>T rs182647425
NM_031296.3(RAB33B):c.-48C>T rs748718122
NM_031296.3(RAB33B):c.-54C>G rs13128486
NM_031296.3(RAB33B):c.128A>G (p.Asn43Ser) rs371561776
NM_031296.3(RAB33B):c.135C>G (p.Gly45=) rs138534367
NM_031296.3(RAB33B):c.136A>C (p.Lys46Gln) rs587776958
NM_031296.3(RAB33B):c.186del (p.Glu63fs) rs1561002040
NM_031296.3(RAB33B):c.201G>A (p.Gly67=)
NM_031296.3(RAB33B):c.211C>T (p.Arg71Ter) rs1085307128
NM_031296.3(RAB33B):c.249+10T>C rs747305009
NM_031296.3(RAB33B):c.258A>G (p.Leu86=)
NM_031296.3(RAB33B):c.336C>T (p.Phe112=) rs142541603
NM_031296.3(RAB33B):c.365T>C (p.Phe122Ser) rs1085307129
NM_031296.3(RAB33B):c.417T>G (p.Asn139Lys) rs200448316
NM_031296.3(RAB33B):c.432T>C (p.Ile144=) rs769999843
NM_031296.3(RAB33B):c.444T>A (p.Asn148Lys) rs886044716
NM_031296.3(RAB33B):c.48_55del (p.Gly17fs) rs1085307130
NM_031296.3(RAB33B):c.490C>T (p.Gln164Ter) rs1085307131
NM_031296.3(RAB33B):c.530C>T (p.Thr177Met)
NM_031296.3(RAB33B):c.553A>G (p.Asn185Asp) rs747031994
NM_031296.3(RAB33B):c.600G>A (p.Lys200=)
NM_031296.3(RAB33B):c.613T>C (p.Leu205=)
NM_031296.3(RAB33B):c.677C>T (p.Thr226Met) rs139823051
NM_031296.3(RAB33B):c.678G>A (p.Thr226=)

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