ClinVar Miner

List of variants in gene combination IFT172, LOC126806173 reported as likely benign for retinitis pigmentosa

Included ClinVar conditions (154):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_015662.3(IFT172):c.3530+7T>C rs150882197 0.00103
NM_015662.3(IFT172):c.3674G>A (p.Arg1225Gln) rs141440865 0.00041
NM_015662.3(IFT172):c.3951+14G>T rs376690357 0.00026
NM_015662.3(IFT172):c.3711+13A>T rs371208266 0.00025
NM_015662.3(IFT172):c.3933G>A (p.Ala1311=) rs143011753 0.00008
NM_015662.3(IFT172):c.3711+17A>G rs376488082 0.00007
NM_015662.3(IFT172):c.3530+12C>G rs755760582 0.00006
NM_015662.3(IFT172):c.3921C>T (p.Asn1307=) rs377211687 0.00006
NM_015662.3(IFT172):c.3549T>C (p.Asp1183=) rs566100277 0.00004
NM_015662.3(IFT172):c.3597C>T (p.Val1199=) rs371169770 0.00003
NM_015662.3(IFT172):c.3822-16G>A rs373661630 0.00003
NM_015662.3(IFT172):c.3711+15G>A rs778810233 0.00002
NM_015662.3(IFT172):c.3530+11C>G rs777469179 0.00001
NM_015662.3(IFT172):c.3531-11C>A rs1489039902 0.00001
NM_015662.3(IFT172):c.3582C>T (p.His1194=) rs376037251 0.00001
NM_015662.3(IFT172):c.3615A>G (p.Gly1205=) rs768132019 0.00001
NM_015662.3(IFT172):c.3732C>T (p.Asp1244=) rs370204045 0.00001
NM_015662.3(IFT172):c.3756T>C (p.Tyr1252=) rs759026392 0.00001
NM_015662.3(IFT172):c.3769C>T (p.Leu1257=) rs373382907 0.00001
NM_015662.3(IFT172):c.3821+20G>T rs747215115 0.00001
NM_015662.3(IFT172):c.3822-19A>T rs1204452162 0.00001
NM_015662.3(IFT172):c.3924C>T (p.Ser1308=) rs764778967 0.00001
NM_015662.3(IFT172):c.3927C>T (p.Gly1309=) rs768633686 0.00001
NM_015662.3(IFT172):c.3513C>A (p.Pro1171=)
NM_015662.3(IFT172):c.3516G>A (p.Lys1172=)
NM_015662.3(IFT172):c.3530+17A>G
NM_015662.3(IFT172):c.3530+18T>C rs2148489134
NM_015662.3(IFT172):c.3530+20C>A
NM_015662.3(IFT172):c.3600C>A (p.Ala1200=) rs1406584809
NM_015662.3(IFT172):c.3600C>T (p.Ala1200=) rs1406584809
NM_015662.3(IFT172):c.3663G>A (p.Gly1221=) rs892273103
NM_015662.3(IFT172):c.3702T>C (p.Asn1234=)
NM_015662.3(IFT172):c.3711+8A>T
NM_015662.3(IFT172):c.3712-17C>A rs760418910
NM_015662.3(IFT172):c.3712-18A>G
NM_015662.3(IFT172):c.3712-6G>C rs1665914988
NM_015662.3(IFT172):c.3735T>G (p.Ala1245=)
NM_015662.3(IFT172):c.3736C>T (p.Leu1246=) rs1665912193
NM_015662.3(IFT172):c.3778C>T (p.Leu1260=) rs1012597627
NM_015662.3(IFT172):c.3801A>G (p.Glu1267=)
NM_015662.3(IFT172):c.3816G>C (p.Gly1272=)
NM_015662.3(IFT172):c.3819C>T (p.Ala1273=)
NM_015662.3(IFT172):c.3821+11A>T
NM_015662.3(IFT172):c.3822-12_3822-11del rs2148486525
NM_015662.3(IFT172):c.3822-13C>G rs765929814
NM_015662.3(IFT172):c.3822-15C>T
NM_015662.3(IFT172):c.3822-5C>T
NM_015662.3(IFT172):c.3822-8C>T
NM_015662.3(IFT172):c.3828G>A (p.Val1276=)
NM_015662.3(IFT172):c.3870A>C (p.Gly1290=)
NM_015662.3(IFT172):c.3888G>A (p.Val1296=)
NM_015662.3(IFT172):c.3951+11C>G
NM_015662.3(IFT172):c.3951+11C>T
NM_015662.3(IFT172):c.3951+17C>T
NM_015662.3(IFT172):c.3951+18T>A
NM_015662.3(IFT172):c.3951+8C>T

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