ClinVar Miner

List of variants in gene TRPS1 reported as pathogenic for trichorhinophalangeal syndrome type I

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NC_000008.10:g.(?_116426231)_(116635884_?)del
NC_000008.10:g.(?_116426251)_(116430700_?)del
NC_000008.10:g.(?_116599208)_(116635864_?)del
NC_000008.10:g.(?_116599208)_(116635864_?)dup
NC_000008.10:g.(?_116616080)_(116635884_?)dup
NC_000008.10:g.(?_116635808)_(116635864_?)del
NC_000008.11:g.(?_115586981)_(115587624_?)del
NM_014112.5(TRPS1):c.1014_1017dup (p.Gln340fs) rs1563638577
NM_014112.5(TRPS1):c.1053C>A (p.Cys351Ter) rs121908430
NM_014112.5(TRPS1):c.1093C>T (p.Gln365Ter) rs1554596393
NM_014112.5(TRPS1):c.1176_1179del (p.Asn393fs) rs1817997640
NM_014112.5(TRPS1):c.1176dup (p.Asn393Ter) rs1554596328
NM_014112.5(TRPS1):c.1180A>T (p.Lys394Ter) rs1368938675
NM_014112.5(TRPS1):c.1229G>A (p.Trp410Ter)
NM_014112.5(TRPS1):c.1373C>A (p.Ser458Ter)
NM_014112.5(TRPS1):c.1387A>T (p.Lys463Ter) rs2130493086
NM_014112.5(TRPS1):c.1402del (p.Tyr468fs) rs2130493020
NM_014112.5(TRPS1):c.1408_1409del (p.Lys470fs)
NM_014112.5(TRPS1):c.1427dup (p.Ser477fs) rs1817988877
NM_014112.5(TRPS1):c.1488del (p.Asn497fs)
NM_014112.5(TRPS1):c.1505del (p.Ser502fs) rs2130492512
NM_014112.5(TRPS1):c.1512_1522del (p.Glu504fs)
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter) rs886040971
NM_014112.5(TRPS1):c.1646_1649dup (p.Pro551fs) rs2130491759
NM_014112.5(TRPS1):c.1649_1650del (p.Gly550fs) rs1554596063
NM_014112.5(TRPS1):c.1690C>T (p.Gln564Ter) rs755557039
NM_014112.5(TRPS1):c.1693C>T (p.Gln565Ter) rs864621974
NM_014112.5(TRPS1):c.1695_1705del (p.Gln565fs) rs1563637033
NM_014112.5(TRPS1):c.1777G>T (p.Glu593Ter) rs2130491235
NM_014112.5(TRPS1):c.1870C>T (p.Arg624Ter) rs121908431
NM_014112.5(TRPS1):c.1898C>A (p.Ser633Ter)
NM_014112.5(TRPS1):c.1911del (p.Asp638fs) rs2130490634
NM_014112.5(TRPS1):c.1942del (p.Ser648fs)
NM_014112.5(TRPS1):c.2049del (p.Lys683fs)
NM_014112.5(TRPS1):c.2086C>T (p.Arg696Ter) rs368166434
NM_014112.5(TRPS1):c.2090dup (p.His697fs) rs2130489877
NM_014112.5(TRPS1):c.2110del (p.Cys704fs) rs1586431903
NM_014112.5(TRPS1):c.2152C>T (p.Gln718Ter) rs2130445981
NM_014112.5(TRPS1):c.2188C>T (p.Gln730Ter) rs2130445833
NM_014112.5(TRPS1):c.2194C>T (p.Gln732Ter) rs2130445786
NM_014112.5(TRPS1):c.2195_2204del (p.Gln732fs) rs1554593085
NM_014112.5(TRPS1):c.2300_2301del (p.Asp766_Ser767insTer) rs2130445285
NM_014112.5(TRPS1):c.2343_2344del (p.Lys782fs) rs1586431452
NM_014112.5(TRPS1):c.2381G>A (p.Trp794Ter)
NM_014112.5(TRPS1):c.2389_2390dup (p.Ser797fs)
NM_014112.5(TRPS1):c.2445dup (p.Ser816fs) rs2130444636
NM_014112.5(TRPS1):c.2453C>A (p.Ser818Ter) rs2130444603
NM_014112.5(TRPS1):c.2480dup (p.Thr828fs) rs2130444402
NM_014112.5(TRPS1):c.2500C>T (p.Gln834Ter)
NM_014112.5(TRPS1):c.2506C>T (p.Gln836Ter)
NM_014112.5(TRPS1):c.2518_2519del (p.Leu840fs) rs2130444163
NM_014112.5(TRPS1):c.2532del (p.Asn845fs)
NM_014112.5(TRPS1):c.2557C>T (p.Arg853Ter) rs121908432
NM_014112.5(TRPS1):c.2568T>G (p.Tyr856Ter) rs1563623987
NM_014112.5(TRPS1):c.2641C>T (p.Gln881Ter) rs1156330285
NM_014112.5(TRPS1):c.2657C>A (p.Ser886Ter) rs142472404
NM_014112.5(TRPS1):c.2666del (p.Asn889fs) rs1586430715
NM_014112.5(TRPS1):c.2700+1G>A rs1586430684
NM_014112.5(TRPS1):c.2738dup (p.Thr914fs)
NM_014112.5(TRPS1):c.2757_2758del (p.Trp920fs) rs2129768973
NM_014112.5(TRPS1):c.2761C>T (p.Arg921Ter) rs751565386
NM_014112.5(TRPS1):c.2762G>A (p.Arg921Gln) rs121908435
NM_014112.5(TRPS1):c.2786T>G (p.Val929Gly) rs2129768696
NM_014112.5(TRPS1):c.2794G>A (p.Ala932Thr) rs1057518972
NM_014112.5(TRPS1):c.2795C>T (p.Ala932Val) rs121908436
NM_014112.5(TRPS1):c.2808C>G (p.Tyr936Ter)
NM_014112.5(TRPS1):c.2829del (p.Arg944fs) rs2129752164
NM_014112.5(TRPS1):c.2866C>T (p.Gln956Ter)
NM_014112.5(TRPS1):c.2880del (p.Arg961fs) rs1586250578
NM_014112.5(TRPS1):c.2892_2899dup (p.Asn967fs) rs1563714392
NM_014112.5(TRPS1):c.2893C>T (p.Arg965Cys) rs28939069
NM_014112.5(TRPS1):c.2894G>A (p.Arg965His) rs28939070
NM_014112.5(TRPS1):c.2927_2931del (p.Leu976fs) rs2129751330
NM_014112.5(TRPS1):c.2941_2942del (p.Arg981fs)
NM_014112.5(TRPS1):c.2956_2960dup (p.Val988fs) rs1812880824
NM_014112.5(TRPS1):c.2981_2984del (p.Glu994fs) rs1554617011
NM_014112.5(TRPS1):c.3010dup (p.Ser1004fs)
NM_014112.5(TRPS1):c.3229A>T (p.Arg1077Ter)
NM_014112.5(TRPS1):c.3248del (p.Lys1083fs) rs2129749121
NM_014112.5(TRPS1):c.3268_3275del (p.His1090fs) rs2129748972
NM_014112.5(TRPS1):c.3315C>G (p.Tyr1105Ter) rs121908434
NM_014112.5(TRPS1):c.3400_3401insGAGG (p.Val1134fs) rs2129748003
NM_014112.5(TRPS1):c.3461dup (p.Tyr1154Ter) rs1812863711
NM_014112.5(TRPS1):c.3556_3559dup (p.Gly1187fs)
NM_014112.5(TRPS1):c.3659del (p.Arg1220fs)
NM_014112.5(TRPS1):c.3698G>A (p.Cys1233Tyr) rs1586249260
NM_014112.5(TRPS1):c.390del (p.Ala131fs)
NM_014112.5(TRPS1):c.489_492del (p.Glu165fs) rs1586464368
NM_014112.5(TRPS1):c.54dup (p.Asn19fs)
NM_014112.5(TRPS1):c.596del (p.Asn199fs) rs2130531960
NM_014112.5(TRPS1):c.612_615dup (p.Gly206fs) rs2130531887
NM_014112.5(TRPS1):c.697C>T (p.Gln233Ter)
NM_014112.5(TRPS1):c.769C>T (p.Arg257Ter) rs2130531352
NM_014112.5(TRPS1):c.801del (p.Arg268fs)
NM_014112.5(TRPS1):c.877C>T (p.Gln293Ter)
NM_014112.5(TRPS1):c.913C>T (p.Gln305Ter) rs1297221126
NM_014112.5(TRPS1):c.964C>T (p.Gln322Ter) rs2130530613
inv(8)(q13q24.1)
inv(8)(q21.1q24.1)

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