List of variants in gene combination CFAP157, PTRH1 studied for not specified

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 87

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HGVS	dbSNP	gnomAD frequency
NM_001002913.3(PTRH1):c.497C>T (p.Pro166Leu)	rs367619523	0.00011
NM_001012502.3(CFAP157):c.440A>G (p.Lys147Arg)	rs200486914	0.00008
NM_001002913.3(PTRH1):c.203G>T (p.Arg68Leu)	rs755421693	0.00007
NM_001002913.3(PTRH1):c.425A>G (p.Asn142Ser)	rs368234898	0.00006
NM_001012502.3(CFAP157):c.307G>A (p.Glu103Lys)	rs374777226	0.00006
NM_001012502.3(CFAP157):c.1079G>A (p.Arg360Gln)	rs541406158	0.00005
NM_001012502.3(CFAP157):c.416C>T (p.Thr139Met)	rs375903663	0.00005
NM_001012502.3(CFAP157):c.425T>C (p.Ile142Thr)	rs201158784	0.00005
NM_001012502.3(CFAP157):c.1241C>T (p.Thr414Met)	rs370613192	0.00004
NM_001012502.3(CFAP157):c.1457G>A (p.Arg486His)	rs200372951	0.00004
NM_001002913.3(PTRH1):c.192G>C (p.Glu64Asp)	rs975192083	0.00003
NM_001012502.3(CFAP157):c.608A>G (p.Gln203Arg)	rs753596066	0.00003
NM_001002913.3(PTRH1):c.611G>A (p.Arg204His)	rs758004584	0.00002
NM_001012502.3(CFAP157):c.1094C>T (p.Ala365Val)	rs777514046	0.00002
NM_001012502.3(CFAP157):c.362C>T (p.Ala121Val)	rs1218828415	0.00002
NM_001012502.3(CFAP157):c.463C>T (p.Arg155Trp)	rs866067906	0.00002
NM_001002913.3(PTRH1):c.220G>C (p.Ala74Pro)	rs760914260	0.00001
NM_001002913.3(PTRH1):c.224A>T (p.Asp75Val)	rs1336207444	0.00001
NM_001002913.3(PTRH1):c.302G>A (p.Ser101Asn)	rs1415871177	0.00001
NM_001002913.3(PTRH1):c.433C>T (p.Arg145Cys)	rs778048757	0.00001
NM_001002913.3(PTRH1):c.517C>G (p.Gln173Glu)	rs568809556	0.00001
NM_001002913.3(PTRH1):c.533G>A (p.Gly178Asp)	rs766802204	0.00001
NM_001012502.3(CFAP157):c.1041G>T (p.Gln347His)	rs199535659	0.00001
NM_001012502.3(CFAP157):c.1186T>C (p.Trp396Arg)	rs748178735	0.00001
NM_001012502.3(CFAP157):c.1336T>C (p.Ser446Pro)	rs543912514	0.00001
NM_001012502.3(CFAP157):c.1495C>T (p.Arg499Cys)	rs752171285	0.00001
NM_001012502.3(CFAP157):c.1519C>T (p.Leu507Phe)	rs975957180	0.00001
NM_001012502.3(CFAP157):c.160C>T (p.Arg54Trp)	rs749457482	0.00001
NM_001012502.3(CFAP157):c.292A>C (p.Ile98Leu)	rs757606132	0.00001
NM_001012502.3(CFAP157):c.419A>G (p.Glu140Gly)	rs1842719449	0.00001
NM_001012502.3(CFAP157):c.656G>A (p.Arg219Gln)	rs372842853	0.00001
NM_001012502.3(CFAP157):c.867G>A (p.Met289Ile)	rs1360730547	0.00001
NM_001012502.3(CFAP157):c.923G>A (p.Arg308His)	rs754078173	0.00001
NM_001012502.3(CFAP157):c.967G>A (p.Val323Met)	rs370486984	0.00001
NM_001002913.3(PTRH1):c.118G>A (p.Gly40Arg)	rs1387499476
NM_001002913.3(PTRH1):c.173G>A (p.Arg58Gln)
NM_001002913.3(PTRH1):c.208C>T (p.Arg70Trp)	rs754107134
NM_001002913.3(PTRH1):c.275G>A (p.Arg92Gln)
NM_001002913.3(PTRH1):c.317C>T (p.Ala106Val)	rs1588401663
NM_001002913.3(PTRH1):c.338C>G (p.Ala113Gly)
NM_001002913.3(PTRH1):c.409A>G (p.Ser137Gly)
NM_001002913.3(PTRH1):c.412G>A (p.Ala138Thr)
NM_001002913.3(PTRH1):c.457T>G (p.Ser153Ala)
NM_001002913.3(PTRH1):c.494G>A (p.Arg165His)
NM_001002913.3(PTRH1):c.494G>T (p.Arg165Leu)
NM_001002913.3(PTRH1):c.538T>A (p.Phe180Ile)	rs2538719824
NM_001002913.3(PTRH1):c.542C>T (p.Ser181Phe)
NM_001002913.3(PTRH1):c.581G>A (p.Arg194Gln)	rs147912974
NM_001002913.3(PTRH1):c.610C>T (p.Arg204Cys)
NM_001002913.3(PTRH1):c.626G>A (p.Gly209Glu)
NM_001002913.3(PTRH1):c.629C>T (p.Pro210Leu)
NM_001002913.3(PTRH1):c.638G>C (p.Gly213Ala)	rs764224561
NM_001012502.3(CFAP157):c.1075G>A (p.Val359Ile)
NM_001012502.3(CFAP157):c.10A>C (p.Lys4Gln)	rs765972226
NM_001012502.3(CFAP157):c.1139T>C (p.Met380Thr)	rs2538711011
NM_001012502.3(CFAP157):c.1145G>A (p.Arg382His)	rs551402620
NM_001012502.3(CFAP157):c.1175C>T (p.Thr392Met)
NM_001012502.3(CFAP157):c.1231A>C (p.Thr411Pro)
NM_001012502.3(CFAP157):c.1393G>A (p.Val465Ile)
NM_001012502.3(CFAP157):c.1399C>T (p.Arg467Cys)
NM_001012502.3(CFAP157):c.1422C>A (p.Asn474Lys)
NM_001012502.3(CFAP157):c.1463G>A (p.Gly488Glu)
NM_001012502.3(CFAP157):c.1472G>A (p.Arg491Gln)
NM_001012502.3(CFAP157):c.1505G>T (p.Gly502Val)	rs2538717395
NM_001012502.3(CFAP157):c.152G>T (p.Arg51Leu)	rs756153647
NM_001012502.3(CFAP157):c.1552C>T (p.Arg518Cys)
NM_001012502.3(CFAP157):c.191T>C (p.Val64Ala)
NM_001012502.3(CFAP157):c.208C>T (p.Arg70Cys)
NM_001012502.3(CFAP157):c.265C>T (p.Arg89Cys)
NM_001012502.3(CFAP157):c.284T>G (p.Val95Gly)	rs1842716127
NM_001012502.3(CFAP157):c.314T>C (p.Leu105Pro)	rs1235209532
NM_001012502.3(CFAP157):c.318G>C (p.Gln106His)	rs2538695808
NM_001012502.3(CFAP157):c.434G>T (p.Gly145Val)	rs202023603
NM_001012502.3(CFAP157):c.441G>C (p.Lys147Asn)	rs1362137572
NM_001012502.3(CFAP157):c.521A>G (p.Lys174Arg)	rs933870019
NM_001012502.3(CFAP157):c.583G>A (p.Asp195Asn)
NM_001012502.3(CFAP157):c.611G>A (p.Arg204His)
NM_001012502.3(CFAP157):c.650C>T (p.Thr217Met)
NM_001012502.3(CFAP157):c.664G>C (p.Glu222Gln)
NM_001012502.3(CFAP157):c.709C>A (p.Gln237Lys)
NM_001012502.3(CFAP157):c.721G>T (p.Val241Phe)
NM_001012502.3(CFAP157):c.737T>G (p.Met246Arg)
NM_001012502.3(CFAP157):c.809A>C (p.Glu270Ala)
NM_001012502.3(CFAP157):c.857T>A (p.Ile286Asn)	rs200892376
NM_001012502.3(CFAP157):c.85G>A (p.Val29Met)
NM_001012502.3(CFAP157):c.887A>C (p.Glu296Ala)
NM_001012502.3(CFAP157):c.976C>G (p.Gln326Glu)

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