ClinVar Miner

List of variants studied for Smith-McCort dysplasia 2

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Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_031296.3(RAB33B):c.*2651C>A rs3088313 0.26120
NM_031296.3(RAB33B):c.-54C>G rs13128486 0.20953
NM_031296.3(RAB33B):c.*1303C>T rs4074940 0.19380
NM_031296.3(RAB33B):c.*595G>A rs13137997 0.13614
NM_031296.3(RAB33B):c.*543C>T rs79952078 0.09274
NM_031296.3(RAB33B):c.*254A>G rs78192594 0.04128
NM_031296.3(RAB33B):c.*590T>C rs78607198 0.01799
NM_031296.3(RAB33B):c.*2026G>A rs144602972 0.01770
NM_031296.3(RAB33B):c.-36C>T rs182647425 0.00916
NM_031296.3(RAB33B):c.*1077G>A rs115582784 0.00878
NM_031296.3(RAB33B):c.530C>T (p.Thr177Met) rs140381459 0.00210
NM_031296.3(RAB33B):c.*576T>C rs4131798 0.00160
NM_031296.3(RAB33B):c.*513C>T rs4131797 0.00158
NM_031296.3(RAB33B):c.677C>T (p.Thr226Met) rs139823051 0.00099
NM_031296.3(RAB33B):c.135C>G (p.Gly45=) rs138534367 0.00076
NM_031296.3(RAB33B):c.*2391C>T rs568714042 0.00058
NM_031296.3(RAB33B):c.*2722T>G rs539470441 0.00046
NM_031296.3(RAB33B):c.*425T>C rs368965362 0.00044
NM_031296.3(RAB33B):c.*2327G>A rs755193519 0.00032
NM_031296.3(RAB33B):c.*2130G>A rs138541013 0.00030
NM_031296.3(RAB33B):c.*780T>C rs535223457 0.00029
NM_031296.3(RAB33B):c.128A>G (p.Asn43Ser) rs371561776 0.00023
NM_031296.3(RAB33B):c.*764G>A rs886059081 0.00022
NM_031296.3(RAB33B):c.258A>G (p.Leu86=) rs189262252 0.00016
NM_031296.3(RAB33B):c.*2355T>A rs778963098 0.00014
NM_031296.3(RAB33B):c.336C>T (p.Phe112=) rs142541603 0.00014
NM_031296.3(RAB33B):c.432T>C (p.Ile144=) rs769999843 0.00012
NM_031296.3(RAB33B):c.417T>G (p.Asn139Lys) rs200448316 0.00009
NM_031296.3(RAB33B):c.*1310G>A rs886059082 0.00006
NM_031296.3(RAB33B):c.*701G>T rs187434569 0.00006
NM_031296.3(RAB33B):c.201G>A (p.Gly67=) rs568007401 0.00005
NM_031296.3(RAB33B):c.*1322C>G rs1007896122 0.00004
NM_031296.3(RAB33B):c.*1949A>C rs1163902963 0.00004
NM_031296.3(RAB33B):c.249+10T>C rs747305009 0.00004
NM_031296.3(RAB33B):c.*494A>C rs886059079 0.00003
NM_031296.3(RAB33B):c.-48C>T rs748718122 0.00003
NM_031296.3(RAB33B):c.*2359T>A rs562130360 0.00002
NM_031296.3(RAB33B):c.*146T>A rs1006747025 0.00001
NM_031296.3(RAB33B):c.*161C>T rs760410514 0.00001
NM_031296.3(RAB33B):c.*1819A>G rs557693738 0.00001
NM_031296.3(RAB33B):c.*2132T>G rs575262316 0.00001
NM_031296.3(RAB33B):c.*219A>G rs886059078 0.00001
NM_031296.3(RAB33B):c.*2754C>G rs1056464543 0.00001
NM_031296.3(RAB33B):c.*632A>G rs886059080 0.00001
NM_031296.3(RAB33B):c.280C>T (p.Arg94Ter) rs1187861686 0.00001
NM_031296.3(RAB33B):c.553A>G (p.Asn185Asp) rs747031994 0.00001
NM_031296.3(RAB33B):c.613T>C (p.Leu205=) rs1410035502 0.00001
NM_031296.3(RAB33B):c.678G>A (p.Thr226=) rs758182997 0.00001
NM_031296.3(RAB33B):c.*1157T>G rs141155369
NM_031296.3(RAB33B):c.*118T>G rs886059077
NM_031296.3(RAB33B):c.*1235G>A rs1750460236
NM_031296.3(RAB33B):c.*1403C>A rs75661332
NM_031296.3(RAB33B):c.*1455A>G rs1750463892
NM_031296.3(RAB33B):c.*1751G>T rs114169513
NM_031296.3(RAB33B):c.*1925A>G rs1750475544
NM_031296.3(RAB33B):c.*1976A>G rs886059083
NM_031296.3(RAB33B):c.*1994T>A rs886059084
NM_031296.3(RAB33B):c.*1A>G rs1750422873
NM_031296.3(RAB33B):c.*2271A>C rs1750482331
NM_031296.3(RAB33B):c.*2522A>C rs1028103416
NM_031296.3(RAB33B):c.*2548T>G rs529499632
NM_031296.3(RAB33B):c.*2599A>G rs886059085
NM_031296.3(RAB33B):c.*776C>T rs77490600
NM_031296.3(RAB33B):c.*924G>A rs1044833370
NM_031296.3(RAB33B):c.133G>A (p.Gly45Ser)
NM_031296.3(RAB33B):c.136A>C (p.Lys46Gln) rs587776958
NM_031296.3(RAB33B):c.144C>A (p.Cys48Ter) rs2111067418
NM_031296.3(RAB33B):c.186del (p.Glu63fs) rs1561002040
NM_031296.3(RAB33B):c.193A>G (p.Thr65Ala) rs2111067573
NM_031296.3(RAB33B):c.211C>T (p.Arg71Ter) rs1085307128
NM_031296.3(RAB33B):c.253C>T (p.Gln85Ter) rs2111087458
NM_031296.3(RAB33B):c.365T>C (p.Phe122Ser) rs1085307129
NM_031296.3(RAB33B):c.400C>T (p.Gln134Ter) rs1750416123
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.600G>A (p.Lys200=) rs1750420600
NM_031296.3(RAB33B):c.690A>C (p.Ter230Tyr) rs2111088217

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