ClinVar Miner

List of variants in gene combination IFT172, KRTCAP3 reported as uncertain significance for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_015662.3(IFT172):c.4666G>A (p.Val1556Met) rs141098495 0.00048
NM_015662.3(IFT172):c.5069-3C>T rs370108416 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.4673C>T (p.Ala1558Val) rs757464563 0.00004
NM_015662.3(IFT172):c.4811C>T (p.Thr1604Ile) rs115716101 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.4914G>A (p.Pro1638=) rs374531022 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.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.5053C>T (p.Pro1685Ser) rs775285304 0.00001
NM_015662.3(IFT172):c.5059C>T (p.Leu1687Phe) rs917873749 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_015662.3(IFT172):c.4676G>A (p.Arg1559Lys)
NM_015662.3(IFT172):c.4697G>A (p.Arg1566His)
NM_015662.3(IFT172):c.4703C>T (p.Thr1568Ile)
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.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.4912C>T (p.Pro1638Ser)
NM_015662.3(IFT172):c.4932_4940del (p.Glu1644_Arg1646del) rs1664979213
NM_015662.3(IFT172):c.4944G>C (p.Trp1648Cys) rs1664978966
NM_015662.3(IFT172):c.4960A>G (p.Met1654Val) rs529850410
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.5068+3A>G rs1664957671
NM_015662.3(IFT172):c.5080C>G (p.Leu1694Val)
NM_015662.3(IFT172):c.5093T>C (p.Ile1698Thr)
NM_015662.3(IFT172):c.5105G>A (p.Arg1702Gln)
NM_015662.3(IFT172):c.5116G>A (p.Ala1706Thr)
NM_015662.3(IFT172):c.5120C>T (p.Ala1707Val)
NM_015662.3(IFT172):c.5159A>G (p.Lys1720Arg) rs755256585
NM_015662.3(IFT172):c.5160+6A>G rs2148464534
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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