ClinVar Miner

List of variants in gene TRAPPC9 studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_001160372.4(TRAPPC9):c.2557-13T>A rs9792174 0.57247
NM_001160372.4(TRAPPC9):c.207T>C (p.Gly69=) rs3735801 0.55959
NM_001160372.4(TRAPPC9):c.288T>C (p.Phe96=) rs3735802 0.55845
NM_001160372.4(TRAPPC9):c.411C>T (p.Asn137=) rs3735803 0.45974
NM_001160372.4(TRAPPC9):c.1134+21A>G rs3779658 0.27421
NM_001160372.4(TRAPPC9):c.1692C>T (p.Asn564=) rs12549048 0.22639
NM_001160372.4(TRAPPC9):c.2431+7G>A rs11166964 0.10663
NM_001160372.4(TRAPPC9):c.3279+4C>T rs79877357 0.02434
NM_031466.8(TRAPPC9):c.-11+10G>A rs117206975 0.01054
NM_001160372.4(TRAPPC9):c.7G>A (p.Val3Ile) rs76033442 0.00489
NM_001160372.4(TRAPPC9):c.3157C>T (p.Arg1053Cys) rs147499593 0.00144
NM_001160372.4(TRAPPC9):c.3149G>A (p.Arg1050Gln) rs111768745 0.00103
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu) rs139631202 0.00072
NM_001160372.4(TRAPPC9):c.2671A>C (p.Thr891Pro) rs562249191 0.00066
NM_001160372.4(TRAPPC9):c.1019C>T (p.Ala340Val) rs143778652 0.00056
NM_001160372.4(TRAPPC9):c.3175G>A (p.Ala1059Thr) rs150200902 0.00056
NM_001160372.4(TRAPPC9):c.853C>T (p.Arg285Trp) rs141441030 0.00045
NM_001160372.4(TRAPPC9):c.2557-14T>A rs757482428 0.00041
NM_001160372.4(TRAPPC9):c.3055+11G>A rs374709193 0.00034
NM_001160372.4(TRAPPC9):c.3356G>A (p.Arg1119Gln) rs145503551 0.00034
NM_001160372.4(TRAPPC9):c.2556+11A>G rs201489589 0.00029
NM_001160372.4(TRAPPC9):c.2681G>A (p.Ser894Asn) rs34181302 0.00029
NM_001160372.4(TRAPPC9):c.1564G>A (p.Ala522Thr) rs148453804 0.00026
NM_001160372.4(TRAPPC9):c.1898C>T (p.Ala633Val) rs375300224 0.00025
NM_001160372.4(TRAPPC9):c.140G>A (p.Arg47Gln) rs147182402 0.00024
NM_001160372.4(TRAPPC9):c.3136C>T (p.Arg1046Trp) rs376617920 0.00015
NM_001160372.4(TRAPPC9):c.3211G>A (p.Gly1071Ser) rs200963473 0.00014
NM_001160372.4(TRAPPC9):c.2653G>A (p.Glu885Lys) rs138928835 0.00012
NM_031466.8(TRAPPC9):c.-74C>A rs139214686 0.00011
NM_001160372.4(TRAPPC9):c.2882C>T (p.Ala961Val) rs769398594 0.00010
NM_001160372.4(TRAPPC9):c.940G>A (p.Ala314Thr) rs762765901 0.00010
NM_001160372.4(TRAPPC9):c.136G>A (p.Val46Met) rs201233141 0.00009
NM_001160372.4(TRAPPC9):c.2556+7T>G rs185632960 0.00009
NM_031466.8(TRAPPC9):c.-73G>C rs767996463 0.00005
NM_001160372.4(TRAPPC9):c.2811-4G>A rs374826041 0.00004
NM_001160372.4(TRAPPC9):c.3056A>C (p.Asp1019Ala) rs755371528 0.00004
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter) rs267607137 0.00003
NM_001160372.4(TRAPPC9):c.1952C>T (p.Pro651Leu) rs143323381 0.00003
NM_001160372.4(TRAPPC9):c.3013C>A (p.Gln1005Lys) rs913893905 0.00003
NM_001160372.4(TRAPPC9):c.3137G>A (p.Arg1046Gln) rs545480303 0.00003
NM_031466.8(TRAPPC9):c.-249C>T rs1446002001 0.00002
NM_001160372.4(TRAPPC9):c.1129C>T (p.Arg377Ter) rs267607136 0.00001
NM_001160372.4(TRAPPC9):c.1625A>G (p.His542Arg) rs149274458 0.00001
NM_001160372.4(TRAPPC9):c.166C>T (p.Arg56Cys) rs1006238101 0.00001
NM_001160372.4(TRAPPC9):c.1948G>A (p.Val650Ile) rs770244296 0.00001
NM_001160372.4(TRAPPC9):c.2551G>A (p.Val851Met) rs1029565906 0.00001
NM_001160372.4(TRAPPC9):c.2597C>T (p.Pro866Leu) rs199948844 0.00001
NM_001160372.4(TRAPPC9):c.2741C>T (p.Thr914Ile) rs1339133695 0.00001
NM_001160372.4(TRAPPC9):c.2854G>T (p.Glu952Ter) rs766614772 0.00001
NM_001160372.4(TRAPPC9):c.3217C>T (p.His1073Tyr) rs1459705932 0.00001
NM_001160372.4(TRAPPC9):c.3279+1G>A rs1489634479 0.00001
NM_001160372.4(TRAPPC9):c.3364G>A (p.Glu1122Lys) rs767963216 0.00001
NM_001160372.4(TRAPPC9):c.367G>T (p.Glu123Ter) rs587780486 0.00001
NM_001160372.4(TRAPPC9):c.101T>G (p.Ile34Ser)
NM_001160372.4(TRAPPC9):c.1099T>G (p.Phe367Val)
NM_001160372.4(TRAPPC9):c.1234G>T (p.Ala412Ser)
NM_001160372.4(TRAPPC9):c.124A>G (p.Ser42Gly)
NM_001160372.4(TRAPPC9):c.1310C>A (p.Pro437His) rs1247214249
NM_001160372.4(TRAPPC9):c.1380G>T (p.Gln460His)
NM_001160372.4(TRAPPC9):c.1496-3C>T rs942972668
NM_001160372.4(TRAPPC9):c.151C>T (p.Arg51Ter) rs2071449158
NM_001160372.4(TRAPPC9):c.1623-1G>A
NM_001160372.4(TRAPPC9):c.1675dup (p.Ser559fs)
NM_001160372.4(TRAPPC9):c.175del (p.His59fs)
NM_001160372.4(TRAPPC9):c.1840C>T (p.Arg614Ter)
NM_001160372.4(TRAPPC9):c.1928del (p.Tyr643fs)
NM_001160372.4(TRAPPC9):c.1994dup (p.Val666fs) rs2131714597
NM_001160372.4(TRAPPC9):c.2019_2022del (p.Leu674fs) rs2131714307
NM_001160372.4(TRAPPC9):c.203G>A (p.Trp68Ter)
NM_001160372.4(TRAPPC9):c.2067A>T (p.Glu689Asp)
NM_001160372.4(TRAPPC9):c.2123del (p.His708fs)
NM_001160372.4(TRAPPC9):c.2173C>T (p.Gln725Ter)
NM_001160372.4(TRAPPC9):c.2186del (p.Gly729fs)
NM_001160372.4(TRAPPC9):c.239T>C (p.Leu80Pro) rs2132705299
NM_001160372.4(TRAPPC9):c.2458_2459del (p.Leu820fs) rs2131321455
NM_001160372.4(TRAPPC9):c.2520dup (p.Glu841fs)
NM_001160372.4(TRAPPC9):c.2557-2A>C rs1587520018
NM_001160372.4(TRAPPC9):c.2699+1G>A rs2131922149
NM_001160372.4(TRAPPC9):c.269A>G (p.Lys90Arg) rs550423753
NM_001160372.4(TRAPPC9):c.2761A>C (p.Ser921Arg)
NM_001160372.4(TRAPPC9):c.2795C>A (p.Ala932Asp) rs759330508
NM_001160372.4(TRAPPC9):c.2815dup (p.Ala939fs)
NM_001160372.4(TRAPPC9):c.2890A>G (p.Lys964Glu) rs1357591960
NM_001160372.4(TRAPPC9):c.2892G>T (p.Lys964Asn)
NM_001160372.4(TRAPPC9):c.2920C>T (p.Arg974Ter)
NM_001160372.4(TRAPPC9):c.3034C>T (p.Gln1012Ter) rs786205595
NM_001160372.4(TRAPPC9):c.3047T>C (p.Leu1016Pro) rs1829977055
NM_001160372.4(TRAPPC9):c.3280-8C>G rs752940904
NM_001160372.4(TRAPPC9):c.370_373dup (p.Val125fs) rs1174482090
NM_001160372.4(TRAPPC9):c.431_446del (p.Val144fs)
NM_001160372.4(TRAPPC9):c.531dup (p.Leu178fs) rs1554689877
NM_001160372.4(TRAPPC9):c.584+1G>A rs1292031022
NM_001160372.4(TRAPPC9):c.677_683dup (p.Met228fs) rs886062727
NM_001160372.4(TRAPPC9):c.731-31_731-11del rs11267571
NM_001160372.4(TRAPPC9):c.799G>A (p.Gly267Arg)
NM_031466.7(TRAPPC9):c.[2415_2416insC];[3349+1G>A]
NM_031466.8(TRAPPC9):c.-124dup rs765943218
NM_031466.8(TRAPPC9):c.-129_-109dup rs367682297

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