ClinVar Miner

List of variants in gene combination IFT172, KRTCAP3 reported by Fulgent Genetics, Fulgent Genetics

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Total variants: 23
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HGVS dbSNP gnomAD frequency
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.4815+9G>A rs199667794 0.00019
NM_015662.3(IFT172):c.5187C>T (p.Asp1729=) rs143671920 0.00015
NM_015662.3(IFT172):c.4996G>A (p.Glu1666Lys) rs373098915 0.00011
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.5104C>T (p.Arg1702Trp) rs560831644 0.00004
NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg) rs149614625 0.00004
NM_015662.3(IFT172):c.4677G>C (p.Arg1559Ser) rs777980611 0.00001
NM_015662.3(IFT172):c.4908T>G (p.His1636Gln) rs201840472 0.00001
NM_015662.3(IFT172):c.4937G>A (p.Arg1646Gln) rs549415233 0.00001
NM_015662.3(IFT172):c.4991G>A (p.Arg1664Gln) rs749884570 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.4812C>G (p.Thr1604=) rs369400518
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.4960A>G (p.Met1654Val) rs529850410
NM_015662.3(IFT172):c.5044C>T (p.Arg1682Ter) rs1329856696

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