List of variants in gene combination IFT172, LOC126806173 reported as uncertain significance for autosomal recessive disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_015662.3(IFT172):c.3674G>A (p.Arg1225Gln)	rs141440865	0.00041
NM_015662.3(IFT172):c.3772G>A (p.Glu1258Lys)	rs529914770	0.00010
NM_015662.3(IFT172):c.3538C>T (p.His1180Tyr)	rs746868013	0.00009
NM_015662.3(IFT172):c.3643G>A (p.Asp1215Asn)	rs777398021	0.00005
NM_015662.3(IFT172):c.3713A>C (p.Glu1238Ala)	rs553301895	0.00004
NM_015662.3(IFT172):c.3739C>T (p.Arg1247Cys)	rs375755957	0.00002
NM_015662.3(IFT172):c.3622C>T (p.Arg1208Trp)	rs779395435	0.00001
NM_015662.3(IFT172):c.3752A>T (p.Asp1251Val)	rs1665910456	0.00001
NM_015662.3(IFT172):c.3767A>G (p.Gln1256Arg)	rs765703265	0.00001
NM_015662.3(IFT172):c.3932C>T (p.Ala1311Val)	rs760562906	0.00001
NM_015662.3(IFT172):c.3623G>C (p.Arg1208Pro)	rs758387302
NM_015662.3(IFT172):c.3632T>G (p.Leu1211Trp)	rs532669006
NM_015662.3(IFT172):c.3700A>C (p.Asn1234His)	rs746597294
NM_015662.3(IFT172):c.3728G>T (p.Ser1243Ile)	rs145507269
NM_015662.3(IFT172):c.3761_3766del (p.Pro1254_Ser1255del)	rs763826196
NM_015662.3(IFT172):c.3808A>C (p.Lys1270Gln)
NM_015662.3(IFT172):c.3824G>T (p.Gly1275Val)	rs543062539

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