ClinVar Miner

List of variants in gene TRPS1 reported as uncertain significance for Trichorhinophalangeal syndrome, type III; Trichorhinophalangeal dysplasia type I

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 181
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HGVS dbSNP gnomAD frequency
NM_014112.5(TRPS1):c.1687T>A (p.Tyr563Asn) rs886062623 0.00013
NM_014112.5(TRPS1):c.3400G>A (p.Val1134Ile) rs143500511 0.00013
NM_014112.5(TRPS1):c.1279T>G (p.Ser427Ala) rs373510969 0.00012
NM_014112.5(TRPS1):c.3140C>T (p.Pro1047Leu) rs200876887 0.00011
NM_014112.5(TRPS1):c.3797C>T (p.Thr1266Met) rs376875568 0.00008
NM_014112.5(TRPS1):c.99C>G (p.Ile33Met) rs61758125 0.00006
NM_014112.5(TRPS1):c.1607A>G (p.Tyr536Cys) rs749022707 0.00004
NM_014112.5(TRPS1):c.3724A>C (p.Met1242Leu) rs374209544 0.00004
NM_014112.5(TRPS1):c.1526C>T (p.Thr509Ile) rs774172927 0.00003
NM_014112.5(TRPS1):c.890G>A (p.Arg297His) rs376460318 0.00003
NM_014112.5(TRPS1):c.601C>G (p.Gln201Glu) rs766826774 0.00002
NM_014112.5(TRPS1):c.2060T>C (p.Ile687Thr) rs774019004 0.00001
NM_014112.5(TRPS1):c.2647T>A (p.Tyr883Asn) rs1039993281 0.00001
NM_014112.5(TRPS1):c.2823G>A (p.Ser941=) rs774932870 0.00001
NM_014112.5(TRPS1):c.3846C>A (p.Asn1282Lys) rs1343541017 0.00001
NM_014112.5(TRPS1):c.3855A>C (p.Gln1285His) rs1335170890 0.00001
NM_014112.5(TRPS1):c.457G>A (p.Ala153Thr) rs570746805 0.00001
NM_014112.5(TRPS1):c.822C>G (p.Asp274Glu) rs374893780 0.00001
NM_014112.5(TRPS1):c.988A>G (p.Ile330Val) rs748358474 0.00001
NM_014112.5(TRPS1):c.1026C>A (p.Asn342Lys) rs1407182463
NM_014112.5(TRPS1):c.1040G>A (p.Arg347His)
NM_014112.5(TRPS1):c.1049T>C (p.Phe350Ser)
NM_014112.5(TRPS1):c.1084G>A (p.Glu362Lys)
NM_014112.5(TRPS1):c.1107G>C (p.Gln369His)
NM_014112.5(TRPS1):c.1138C>T (p.Pro380Ser)
NM_014112.5(TRPS1):c.1150G>T (p.Val384Phe)
NM_014112.5(TRPS1):c.1154C>A (p.Ala385Glu)
NM_014112.5(TRPS1):c.1196T>G (p.Leu399Arg)
NM_014112.5(TRPS1):c.1217A>G (p.Asp406Gly)
NM_014112.5(TRPS1):c.1219T>A (p.Leu407Met) rs1817996176
NM_014112.5(TRPS1):c.1223G>C (p.Gly408Ala)
NM_014112.5(TRPS1):c.1244C>T (p.Thr415Ile)
NM_014112.5(TRPS1):c.1333A>C (p.Ser445Arg)
NM_014112.5(TRPS1):c.1339T>C (p.Tyr447His)
NM_014112.5(TRPS1):c.1346G>A (p.Cys449Tyr)
NM_014112.5(TRPS1):c.1372T>A (p.Ser458Thr)
NM_014112.5(TRPS1):c.1376C>G (p.Ser459Cys)
NM_014112.5(TRPS1):c.1396G>C (p.Glu466Gln)
NM_014112.5(TRPS1):c.140A>G (p.Asn47Ser)
NM_014112.5(TRPS1):c.1411C>A (p.Gln471Lys)
NM_014112.5(TRPS1):c.1417G>A (p.Gly473Arg)
NM_014112.5(TRPS1):c.1435G>A (p.Gly479Ser)
NM_014112.5(TRPS1):c.1444C>A (p.Pro482Thr)
NM_014112.5(TRPS1):c.1494T>A (p.Asp498Glu)
NM_014112.5(TRPS1):c.1558AAG[1] (p.Lys521del)
NM_014112.5(TRPS1):c.1615C>A (p.Gln539Lys)
NM_014112.5(TRPS1):c.1631G>A (p.Arg544Gln)
NM_014112.5(TRPS1):c.1651C>A (p.Pro551Thr)
NM_014112.5(TRPS1):c.1652C>T (p.Pro551Leu) rs2130491714
NM_014112.5(TRPS1):c.1654G>C (p.Asp552His)
NM_014112.5(TRPS1):c.1657G>C (p.Val553Leu) rs780734185
NM_014112.5(TRPS1):c.1663G>T (p.Val555Leu)
NM_014112.5(TRPS1):c.1697T>G (p.Leu566Arg)
NM_014112.5(TRPS1):c.1718C>T (p.Thr573Ile) rs2130491431
NM_014112.5(TRPS1):c.17A>G (p.Asn6Ser)
NM_014112.5(TRPS1):c.1846T>A (p.Ser616Thr) rs780551240
NM_014112.5(TRPS1):c.1856C>T (p.Ala619Val)
NM_014112.5(TRPS1):c.185G>A (p.Ser62Asn) rs1085307671
NM_014112.5(TRPS1):c.1877A>G (p.Lys626Arg)
NM_014112.5(TRPS1):c.1951G>A (p.Glu651Lys) rs1174923595
NM_014112.5(TRPS1):c.1955C>A (p.Ser652Tyr)
NM_014112.5(TRPS1):c.1975C>A (p.Gln659Lys)
NM_014112.5(TRPS1):c.2026A>G (p.Ser676Gly)
NM_014112.5(TRPS1):c.202A>G (p.Asn68Asp)
NM_014112.5(TRPS1):c.2036A>T (p.His679Leu)
NM_014112.5(TRPS1):c.2107A>C (p.Ser703Arg)
NM_014112.5(TRPS1):c.2108G>A (p.Ser703Asn)
NM_014112.5(TRPS1):c.212A>G (p.Glu71Gly)
NM_014112.5(TRPS1):c.2183A>G (p.His728Arg)
NM_014112.5(TRPS1):c.2195A>G (p.Gln732Arg)
NM_014112.5(TRPS1):c.2198A>G (p.Asp733Gly)
NM_014112.5(TRPS1):c.2213A>G (p.Asn738Ser)
NM_014112.5(TRPS1):c.2236A>C (p.Ile746Leu)
NM_014112.5(TRPS1):c.2251G>C (p.Glu751Gln) rs1207875402
NM_014112.5(TRPS1):c.2297A>C (p.Asp766Ala) rs1817588637
NM_014112.5(TRPS1):c.2397T>A (p.Ser799Arg)
NM_014112.5(TRPS1):c.23G>A (p.Gly8Glu)
NM_014112.5(TRPS1):c.23_28del (p.Gly8_Tyr9del)
NM_014112.5(TRPS1):c.2441G>A (p.Arg814Gln) rs146506752
NM_014112.5(TRPS1):c.2444G>T (p.Gly815Val) rs763124273
NM_014112.5(TRPS1):c.2469C>G (p.Ser823Arg)
NM_014112.5(TRPS1):c.2522G>A (p.Arg841Lys)
NM_014112.5(TRPS1):c.2542G>A (p.Ala848Thr)
NM_014112.5(TRPS1):c.2572T>G (p.Leu858Val)
NM_014112.5(TRPS1):c.2579T>G (p.Val860Gly)
NM_014112.5(TRPS1):c.2585C>T (p.Thr862Ile)
NM_014112.5(TRPS1):c.2609C>T (p.Pro870Leu)
NM_014112.5(TRPS1):c.2627C>A (p.Ser876Tyr)
NM_014112.5(TRPS1):c.2632G>A (p.Ala878Thr)
NM_014112.5(TRPS1):c.2638C>T (p.Pro880Ser)
NM_014112.5(TRPS1):c.264G>T (p.Leu88Phe)
NM_014112.5(TRPS1):c.2650C>T (p.Pro884Ser) rs2130443313
NM_014112.5(TRPS1):c.2683T>G (p.Ser895Ala) rs2130443107
NM_014112.5(TRPS1):c.2697A>T (p.Leu899Phe)
NM_014112.5(TRPS1):c.2700G>C (p.Arg900=) rs2130443039
NM_014112.5(TRPS1):c.2725T>C (p.Cys909Arg)
NM_014112.5(TRPS1):c.2732A>G (p.Asn911Ser) rs1554617580
NM_014112.5(TRPS1):c.2735G>T (p.Cys912Phe)
NM_014112.5(TRPS1):c.2750C>T (p.Thr917Ile)
NM_014112.5(TRPS1):c.2753C>T (p.Ser918Phe)
NM_014112.5(TRPS1):c.275T>C (p.Val92Ala) rs1818352045
NM_014112.5(TRPS1):c.2769T>G (p.Asn923Lys) rs775374141
NM_014112.5(TRPS1):c.2788T>C (p.Cys930Arg) rs1812971696
NM_014112.5(TRPS1):c.2788T>G (p.Cys930Gly) rs1812971696
NM_014112.5(TRPS1):c.2792A>T (p.Asn931Ile)
NM_014112.5(TRPS1):c.2803C>T (p.Leu935Phe) rs1812970992
NM_014112.5(TRPS1):c.2812A>C (p.Lys938Gln)
NM_014112.5(TRPS1):c.2879G>C (p.Arg960Thr)
NM_014112.5(TRPS1):c.2891A>C (p.Lys964Thr) rs1812883227
NM_014112.5(TRPS1):c.2907G>C (p.Glu969Asp)
NM_014112.5(TRPS1):c.2924A>T (p.Gln975Leu)
NM_014112.5(TRPS1):c.2930A>G (p.Asn977Ser)
NM_014112.5(TRPS1):c.2975C>T (p.Pro992Leu)
NM_014112.5(TRPS1):c.3020G>A (p.Arg1007Lys)
NM_014112.5(TRPS1):c.3028C>G (p.Pro1010Ala)
NM_014112.5(TRPS1):c.304G>A (p.Glu102Lys)
NM_014112.5(TRPS1):c.3052G>A (p.Glu1018Lys)
NM_014112.5(TRPS1):c.3060G>T (p.Gln1020His)
NM_014112.5(TRPS1):c.3116T>C (p.Leu1039Pro) rs1286729898
NM_014112.5(TRPS1):c.3176C>G (p.Thr1059Ser)
NM_014112.5(TRPS1):c.3182A>G (p.Asp1061Gly)
NM_014112.5(TRPS1):c.3185C>T (p.Pro1062Leu)
NM_014112.5(TRPS1):c.3188G>A (p.Gly1063Glu)
NM_014112.5(TRPS1):c.323G>A (p.Gly108Glu) rs1206269604
NM_014112.5(TRPS1):c.3263C>T (p.Ala1088Val)
NM_014112.5(TRPS1):c.3272C>T (p.Pro1091Leu)
NM_014112.5(TRPS1):c.3317C>A (p.Pro1106Gln)
NM_014112.5(TRPS1):c.3334T>C (p.Phe1112Leu)
NM_014112.5(TRPS1):c.3364G>A (p.Asp1122Asn)
NM_014112.5(TRPS1):c.3374G>A (p.Arg1125Gln)
NM_014112.5(TRPS1):c.3419A>G (p.Tyr1140Cys)
NM_014112.5(TRPS1):c.341C>T (p.Pro114Leu)
NM_014112.5(TRPS1):c.3443C>G (p.Pro1148Arg)
NM_014112.5(TRPS1):c.3469T>C (p.Tyr1157His)
NM_014112.5(TRPS1):c.3499T>G (p.Ser1167Ala)
NM_014112.5(TRPS1):c.3502G>T (p.Ala1168Ser)
NM_014112.5(TRPS1):c.3505G>T (p.Val1169Phe)
NM_014112.5(TRPS1):c.3509G>C (p.Gly1170Ala)
NM_014112.5(TRPS1):c.3515A>G (p.Asp1172Gly) rs986339998
NM_014112.5(TRPS1):c.3518A>G (p.Asn1173Ser)
NM_014112.5(TRPS1):c.3539C>T (p.Ala1180Val)
NM_014112.5(TRPS1):c.3584A>G (p.Lys1195Arg)
NM_014112.5(TRPS1):c.35C>T (p.Thr12Ile)
NM_014112.5(TRPS1):c.3616A>T (p.Asn1206Tyr)
NM_014112.5(TRPS1):c.361A>G (p.Arg121Gly) rs964024525
NM_014112.5(TRPS1):c.3620A>G (p.Glu1207Gly) rs2129746312
NM_014112.5(TRPS1):c.3629T>G (p.Leu1210Trp) rs2129746217
NM_014112.5(TRPS1):c.3637G>C (p.Val1213Leu)
NM_014112.5(TRPS1):c.37+7G>A
NM_014112.5(TRPS1):c.3703A>G (p.Ile1235Val)
NM_014112.5(TRPS1):c.3717T>A (p.Asp1239Glu)
NM_014112.5(TRPS1):c.3724A>T (p.Met1242Leu)
NM_014112.5(TRPS1):c.3725dup (p.Met1242fs)
NM_014112.5(TRPS1):c.3736C>T (p.His1246Tyr) rs1812855223
NM_014112.5(TRPS1):c.3749A>C (p.His1250Pro) rs2129745482
NM_014112.5(TRPS1):c.3749A>G (p.His1250Arg)
NM_014112.5(TRPS1):c.3751G>A (p.Gly1251Ser) rs1234476401
NM_014112.5(TRPS1):c.3790C>G (p.Leu1264Val)
NM_014112.5(TRPS1):c.3833G>C (p.Gly1278Ala)
NM_014112.5(TRPS1):c.3866dup (p.Asn1289fs) rs1401148397
NM_014112.5(TRPS1):c.388G>C (p.Ala130Pro)
NM_014112.5(TRPS1):c.416A>G (p.Lys139Arg)
NM_014112.5(TRPS1):c.461G>A (p.Cys154Tyr)
NM_014112.5(TRPS1):c.49A>G (p.Lys17Glu)
NM_014112.5(TRPS1):c.504G>T (p.Lys168Asn)
NM_014112.5(TRPS1):c.570G>C (p.Leu190Phe)
NM_014112.5(TRPS1):c.584T>C (p.Val195Ala)
NM_014112.5(TRPS1):c.586G>A (p.Ala196Thr)
NM_014112.5(TRPS1):c.587C>T (p.Ala196Val)
NM_014112.5(TRPS1):c.592A>G (p.Lys198Glu)
NM_014112.5(TRPS1):c.599C>T (p.Pro200Leu)
NM_014112.5(TRPS1):c.608C>T (p.Pro203Leu)
NM_014112.5(TRPS1):c.653T>G (p.Leu218Arg)
NM_014112.5(TRPS1):c.713A>G (p.Asn238Ser)
NM_014112.5(TRPS1):c.805C>G (p.Gln269Glu) rs770670680
NM_014112.5(TRPS1):c.878A>G (p.Gln293Arg)
NM_014112.5(TRPS1):c.895G>T (p.Val299Leu)
NM_014112.5(TRPS1):c.923A>G (p.Asn308Ser)
NM_014112.5(TRPS1):c.926C>T (p.Ser309Phe)
NM_014112.5(TRPS1):c.940T>A (p.Leu314Ile)
NM_014112.5(TRPS1):c.950G>A (p.Gly317Glu)

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