ClinVar Miner

List of variants in gene IFT172, KRTCAP3 studied for Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71

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Gene type:
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Total variants: 159
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HGVS dbSNP gnomAD frequency
NM_015662.3(IFT172):c.4745T>C (p.Ile1582Thr) rs61742074 0.00712
NM_015662.3(IFT172):c.4755+9G>C rs375261962 0.00135
NM_015662.3(IFT172):c.5161-20G>A rs372154058 0.00076
NM_015662.3(IFT172):c.4666G>A (p.Val1556Met) rs141098495 0.00048
NM_015662.3(IFT172):c.4933G>A (p.Val1645Ile) rs149117098 0.00046
NM_015662.3(IFT172):c.4815+9G>A rs199667794 0.00019
NM_015662.3(IFT172):c.5187C>T (p.Asp1729=) rs143671920 0.00015
NM_015662.3(IFT172):c.4795C>T (p.Arg1599Cys) rs186020523 0.00013
NM_015662.3(IFT172):c.5069-3C>T rs370108416 0.00012
NM_015662.3(IFT172):c.5161-12A>G rs368863616 0.00012
NM_015662.3(IFT172):c.4996G>A (p.Glu1666Lys) rs373098915 0.00011
NM_015662.3(IFT172):c.4909G>A (p.Val1637Ile) rs571686284 0.00010
NM_015662.3(IFT172):c.5128G>A (p.Asp1710Asn) rs542662514 0.00009
NM_015662.3(IFT172):c.4816-8T>C rs371396353 0.00007
NM_015662.3(IFT172):c.4990C>T (p.Arg1664Trp) rs139348179 0.00005
NM_015662.3(IFT172):c.4673C>T (p.Ala1558Val) rs757464563 0.00004
NM_015662.3(IFT172):c.4755+11del rs775669156 0.00004
NM_015662.3(IFT172):c.4811C>T (p.Thr1604Ile) rs115716101 0.00004
NM_015662.3(IFT172):c.4816-6C>T rs367782557 0.00004
NM_015662.3(IFT172):c.4867A>G (p.Thr1623Ala) rs750991615 0.00004
NM_015662.3(IFT172):c.5000G>A (p.Arg1667His) rs201017771 0.00004
NM_015662.3(IFT172):c.5104C>T (p.Arg1702Trp) rs560831644 0.00004
NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg) rs149614625 0.00004
NM_015662.3(IFT172):c.4689A>G (p.Ser1563=) rs370933808 0.00003
NM_015662.3(IFT172):c.4815+19C>T rs371490518 0.00003
NM_015662.3(IFT172):c.4914G>A (p.Pro1638=) rs374531022 0.00003
NM_015662.3(IFT172):c.4915-17C>T rs1431263019 0.00003
NM_015662.3(IFT172):c.5005G>A (p.Ala1669Thr) rs146575848 0.00003
NM_015662.3(IFT172):c.5045G>A (p.Arg1682Gln) rs773691500 0.00003
NM_015662.3(IFT172):c.4793A>G (p.Asn1598Ser) rs755477787 0.00002
NM_015662.3(IFT172):c.4813G>A (p.Asp1605Asn) rs755717990 0.00002
NM_015662.3(IFT172):c.5024T>C (p.Val1675Ala) rs774361785 0.00002
NM_015662.3(IFT172):c.5029G>T (p.Ala1677Ser) rs766918099 0.00002
NM_015662.3(IFT172):c.5033G>A (p.Ser1678Asn) rs972056548 0.00002
NM_015662.3(IFT172):c.5068G>C (p.Gly1690Arg) rs200049734 0.00002
NM_015662.3(IFT172):c.4677G>C (p.Arg1559Ser) rs777980611 0.00001
NM_015662.3(IFT172):c.4759G>A (p.Val1587Ile) rs774941853 0.00001
NM_015662.3(IFT172):c.4775T>C (p.Met1592Thr) rs773569919 0.00001
NM_015662.3(IFT172):c.4847A>G (p.Asp1616Gly) rs754517347 0.00001
NM_015662.3(IFT172):c.4868C>T (p.Thr1623Ile) rs762958757 0.00001
NM_015662.3(IFT172):c.4878C>T (p.Pro1626=) rs773180868 0.00001
NM_015662.3(IFT172):c.4893C>A (p.Leu1631=) rs1237678953 0.00001
NM_015662.3(IFT172):c.4908T>G (p.His1636Gln) rs201840472 0.00001
NM_015662.3(IFT172):c.4921G>A (p.Glu1641Lys) rs370504937 0.00001
NM_015662.3(IFT172):c.4937G>A (p.Arg1646Gln) rs549415233 0.00001
NM_015662.3(IFT172):c.4975G>C (p.Glu1659Gln) rs1488810130 0.00001
NM_015662.3(IFT172):c.4981G>A (p.Val1661Ile) rs779670290 0.00001
NM_015662.3(IFT172):c.4991G>A (p.Arg1664Gln) rs749884570 0.00001
NM_015662.3(IFT172):c.4997A>G (p.Glu1666Gly) rs1664968356 0.00001
NM_015662.3(IFT172):c.4999C>T (p.Arg1667Cys) rs757212554 0.00001
NM_015662.3(IFT172):c.5010C>T (p.Tyr1670=) rs1459018703 0.00001
NM_015662.3(IFT172):c.5050C>T (p.Leu1684=) rs1350772419 0.00001
NM_015662.3(IFT172):c.5053C>T (p.Pro1685Ser) rs775285304 0.00001
NM_015662.3(IFT172):c.5059C>T (p.Leu1687Phe) rs917873749 0.00001
NM_015662.3(IFT172):c.5124C>A (p.Asn1708Lys) rs868748622 0.00001
NM_015662.3(IFT172):c.5149A>C (p.Met1717Leu) rs146309780 0.00001
NM_015662.3(IFT172):c.5160+5G>A rs1664926036 0.00001
NM_015662.3(IFT172):c.5170A>C (p.Ser1724Arg) rs148800421 0.00001
NM_015662.3(IFT172):c.5182C>A (p.Gln1728Lys) rs753075654 0.00001
NM_015662.3(IFT172):c.5188G>A (p.Val1730Met) rs985755052 0.00001
NC_000002.11:g.(?_27667299)_(27677547_?)dup
NM_001168364.2(KRTCAP3):c.*5+455_*5+465del
NM_015662.3(IFT172):c.4660-5C>T
NM_015662.3(IFT172):c.4668G>T (p.Val1556=)
NM_015662.3(IFT172):c.4676G>A (p.Arg1559Lys)
NM_015662.3(IFT172):c.4680_4683del (p.Ser1561fs) rs1665095139
NM_015662.3(IFT172):c.4692C>T (p.Leu1564=)
NM_015662.3(IFT172):c.4697G>A (p.Arg1566His)
NM_015662.3(IFT172):c.4701C>A (p.His1567Gln) rs786205855
NM_015662.3(IFT172):c.4703C>T (p.Thr1568Ile)
NM_015662.3(IFT172):c.4733A>G (p.Tyr1578Cys)
NM_015662.3(IFT172):c.4743C>G (p.Gly1581=)
NM_015662.3(IFT172):c.4749T>A (p.Ala1583=) rs1160368460
NM_015662.3(IFT172):c.4755+20G>C
NM_015662.3(IFT172):c.4755+9G>A rs375261962
NM_015662.3(IFT172):c.4756-13T>C
NM_015662.3(IFT172):c.4756-15T>A
NM_015662.3(IFT172):c.4756-17A>C
NM_015662.3(IFT172):c.4756-17A>T rs753517897
NM_015662.3(IFT172):c.4756-20G>C
NM_015662.3(IFT172):c.4756-20G>T
NM_015662.3(IFT172):c.4756-5T>C
NM_015662.3(IFT172):c.4756-6C>G
NM_015662.3(IFT172):c.4756-9T>G
NM_015662.3(IFT172):c.4760T>C (p.Val1587Ala) rs1483735124
NM_015662.3(IFT172):c.4773C>G (p.Asn1591Lys) rs770759155
NM_015662.3(IFT172):c.4776G>A (p.Met1592Ile) rs1042644207
NM_015662.3(IFT172):c.4780T>C (p.Phe1594Leu)
NM_015662.3(IFT172):c.4789dup (p.Leu1597fs) rs2148467517
NM_015662.3(IFT172):c.4812C>G (p.Thr1604=) rs369400518
NM_015662.3(IFT172):c.4812C>T (p.Thr1604=) rs369400518
NM_015662.3(IFT172):c.4815+10G>A rs759461544
NM_015662.3(IFT172):c.4815+10del
NM_015662.3(IFT172):c.4815+12A>G rs774356097
NM_015662.3(IFT172):c.4815+16G>C rs1296172696
NM_015662.3(IFT172):c.4815+1G>A
NM_015662.3(IFT172):c.4815+20C>G
NM_015662.3(IFT172):c.4815+2_4815+3del rs2148467424
NM_015662.3(IFT172):c.4816-5T>C
NM_015662.3(IFT172):c.4816-9_4816-8del rs777369595
NM_015662.3(IFT172):c.4842C>T (p.Gly1614=)
NM_015662.3(IFT172):c.4851C>T (p.His1617=)
NM_015662.3(IFT172):c.4853del (p.Ser1618fs) rs2148467030
NM_015662.3(IFT172):c.4874T>G (p.Ile1625Ser)
NM_015662.3(IFT172):c.4876_4878dup (p.Pro1626_Phe1627insPro) rs1437853998
NM_015662.3(IFT172):c.4891C>T (p.Leu1631Phe)
NM_015662.3(IFT172):c.4902G>A (p.Lys1634=)
NM_015662.3(IFT172):c.4912C>T (p.Pro1638Ser)
NM_015662.3(IFT172):c.4914+13G>T rs867633277
NM_015662.3(IFT172):c.4914+1G>A
NM_015662.3(IFT172):c.4914+20A>G
NM_015662.3(IFT172):c.4914+7G>A
NM_015662.3(IFT172):c.4915-16T>A
NM_015662.3(IFT172):c.4915-5T>C
NM_015662.3(IFT172):c.4915-5T>G
NM_015662.3(IFT172):c.4925_4928del (p.Arg1642fs) rs587777078
NM_015662.3(IFT172):c.4932_4940del (p.Glu1644_Arg1646del) rs1664979213
NM_015662.3(IFT172):c.4936C>T (p.Arg1646Ter)
NM_015662.3(IFT172):c.4944G>C (p.Trp1648Cys) rs1664978966
NM_015662.3(IFT172):c.4950T>G (p.Leu1650=) rs1238278691
NM_015662.3(IFT172):c.4960A>G (p.Met1654Val) rs529850410
NM_015662.3(IFT172):c.4966C>T (p.Gln1656Ter)
NM_015662.3(IFT172):c.4988C>T (p.Pro1663Leu) rs1357445568
NM_015662.3(IFT172):c.4998G>T (p.Glu1666Asp) rs2148465651
NM_015662.3(IFT172):c.5015C>G (p.Ala1672Gly) rs2148465580
NM_015662.3(IFT172):c.5018C>T (p.Ser1673Phe)
NM_015662.3(IFT172):c.5036C>G (p.Thr1679Ser) rs2148465499
NM_015662.3(IFT172):c.5041G>A (p.Val1681Ile) rs763335302
NM_015662.3(IFT172):c.5044C>G (p.Arg1682Gly)
NM_015662.3(IFT172):c.5044C>T (p.Arg1682Ter) rs1329856696
NM_015662.3(IFT172):c.5049C>G (p.Ala1683=) rs1285975087
NM_015662.3(IFT172):c.5068+14C>T
NM_015662.3(IFT172):c.5068+3A>G rs1664957671
NM_015662.3(IFT172):c.5069-20C>A
NM_015662.3(IFT172):c.5069-2A>G rs2148464837
NM_015662.3(IFT172):c.5080C>G (p.Leu1694Val)
NM_015662.3(IFT172):c.5082G>C (p.Leu1694=)
NM_015662.3(IFT172):c.5093T>C (p.Ile1698Thr)
NM_015662.3(IFT172):c.5105G>A (p.Arg1702Gln)
NM_015662.3(IFT172):c.5106G>A (p.Arg1702=) rs2148464737
NM_015662.3(IFT172):c.5116G>A (p.Ala1706Thr)
NM_015662.3(IFT172):c.5120C>T (p.Ala1707Val)
NM_015662.3(IFT172):c.5142A>G (p.Lys1714=)
NM_015662.3(IFT172):c.5154C>T (p.Ala1718=)
NM_015662.3(IFT172):c.5159A>G (p.Lys1720Arg) rs755256585
NM_015662.3(IFT172):c.5160+12_5160+14del
NM_015662.3(IFT172):c.5160+13G>A rs1185416215
NM_015662.3(IFT172):c.5160+14A>G
NM_015662.3(IFT172):c.5160+15C>T
NM_015662.3(IFT172):c.5160+16T>G
NM_015662.3(IFT172):c.5160+6A>G rs2148464534
NM_015662.3(IFT172):c.5161-5C>G
NM_015662.3(IFT172):c.5161-5C>T
NM_015662.3(IFT172):c.5170A>G (p.Ser1724Gly) rs148800421
NM_015662.3(IFT172):c.5204G>A (p.Ser1735Asn)
NM_015662.3(IFT172):c.5207_5209del (p.Gln1736_Trp1737delinsArg) rs2148462684
NM_015662.3(IFT172):c.5212T>G (p.Cys1738Gly) rs1664849569
NM_015662.3(IFT172):c.5228G>C (p.Ser1743Thr) rs2148462622
NM_015662.3(IFT172):c.5245C>G (p.Gln1749Glu) rs2148462534

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