List of variants in gene NLRP13 reported as uncertain significance by Ambry Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 101

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HGVS	dbSNP	gnomAD frequency
NM_176810.2(NLRP13):c.788C>T (p.Ser263Phe)	rs137923694	0.00066
NM_176810.2(NLRP13):c.860T>G (p.Leu287Trp)	rs147819247	0.00060
NM_176810.2(NLRP13):c.716T>C (p.Val239Ala)	rs150114825	0.00019
NM_176810.2(NLRP13):c.2245G>A (p.Ala749Thr)	rs368330089	0.00011
NM_176810.2(NLRP13):c.2647G>A (p.Ala883Thr)	rs201745063	0.00011
NM_176810.2(NLRP13):c.1757T>C (p.Leu586Pro)	rs767498357	0.00010
NM_176810.2(NLRP13):c.1717G>A (p.Val573Ile)	rs45570942	0.00009
NM_176810.2(NLRP13):c.2468C>T (p.Ser823Leu)	rs367708599	0.00009
NM_176810.2(NLRP13):c.1085C>T (p.Thr362Met)	rs765112271	0.00008
NM_176810.2(NLRP13):c.137C>T (p.Ser46Leu)	rs373438857	0.00007
NM_176810.2(NLRP13):c.964C>T (p.Arg322Cys)	rs200051453	0.00006
NM_176810.2(NLRP13):c.2849A>G (p.His950Arg)	rs150412823	0.00005
NM_176810.2(NLRP13):c.899T>C (p.Met300Thr)	rs774939659	0.00005
NM_176810.2(NLRP13):c.1246G>A (p.Glu416Lys)	rs544413027	0.00004
NM_176810.2(NLRP13):c.2065C>T (p.Leu689Phe)	rs372028685	0.00004
NM_176810.2(NLRP13):c.2335C>A (p.Gln779Lys)	rs756655993	0.00004
NM_176810.2(NLRP13):c.2433C>A (p.Asn811Lys)	rs775658378	0.00004
NM_176810.2(NLRP13):c.1094C>A (p.Thr365Asn)	rs773652459	0.00003
NM_176810.2(NLRP13):c.112C>A (p.Pro38Thr)	rs778748255	0.00003
NM_176810.2(NLRP13):c.1481T>C (p.Met494Thr)	rs753964003	0.00003
NM_176810.2(NLRP13):c.29A>G (p.Asn10Ser)	rs766296500	0.00003
NM_176810.2(NLRP13):c.460A>C (p.Asn154His)	rs150611978	0.00003
NM_176810.2(NLRP13):c.2185C>T (p.His729Tyr)	rs1468525101	0.00002
NM_176810.2(NLRP13):c.2620C>T (p.Leu874Phe)	rs762255116	0.00002
NM_176810.2(NLRP13):c.650G>A (p.Arg217His)	rs146131724	0.00002
NM_176810.2(NLRP13):c.728C>A (p.Thr243Asn)	rs535450227	0.00002
NM_176810.2(NLRP13):c.1102G>A (p.Val368Met)	rs370699360	0.00001
NM_176810.2(NLRP13):c.1397C>G (p.Thr466Arg)	rs1986545207	0.00001
NM_176810.2(NLRP13):c.1420G>A (p.Asp474Asn)	rs146782806	0.00001
NM_176810.2(NLRP13):c.1745C>A (p.Thr582Asn)	rs770048219	0.00001
NM_176810.2(NLRP13):c.2156G>T (p.Cys719Phe)	rs922132960	0.00001
NM_176810.2(NLRP13):c.2285G>A (p.Cys762Tyr)	rs770593098	0.00001
NM_176810.2(NLRP13):c.230C>G (p.Pro77Arg)	rs769098496	0.00001
NM_176810.2(NLRP13):c.2543A>G (p.Asn848Ser)	rs192332058	0.00001
NM_176810.2(NLRP13):c.2963C>T (p.Ala988Val)	rs201165184	0.00001
NM_176810.2(NLRP13):c.3038T>C (p.Leu1013Pro)	rs747799295	0.00001
NM_176810.2(NLRP13):c.3043C>A (p.Leu1015Ile)	rs756044975	0.00001
NM_176810.2(NLRP13):c.397C>G (p.Gln133Glu)	rs775524553	0.00001
NM_176810.2(NLRP13):c.478T>C (p.Cys160Arg)	rs774594349	0.00001
NM_176810.2(NLRP13):c.587G>A (p.Ser196Asn)	rs757097419	0.00001
NM_176810.2(NLRP13):c.793G>A (p.Val265Ile)	rs765838590	0.00001
NM_176810.2(NLRP13):c.1005G>C (p.Trp335Cys)
NM_176810.2(NLRP13):c.1159A>G (p.Thr387Ala)
NM_176810.2(NLRP13):c.1198G>A (p.Asp400Asn)
NM_176810.2(NLRP13):c.1202A>T (p.Asp401Val)	rs1568694764
NM_176810.2(NLRP13):c.1250C>T (p.Thr417Ile)
NM_176810.2(NLRP13):c.1259A>C (p.His420Pro)	rs967083147
NM_176810.2(NLRP13):c.1294T>C (p.Cys432Arg)
NM_176810.2(NLRP13):c.1360A>C (p.Ser454Arg)
NM_176810.2(NLRP13):c.142C>G (p.Pro48Ala)
NM_176810.2(NLRP13):c.1457T>C (p.Leu486Pro)	rs2514341042
NM_176810.2(NLRP13):c.1532C>G (p.Pro511Arg)
NM_176810.2(NLRP13):c.153C>A (p.His51Gln)
NM_176810.2(NLRP13):c.1564C>T (p.Leu522Phe)
NM_176810.2(NLRP13):c.1571A>G (p.Lys524Arg)
NM_176810.2(NLRP13):c.157C>A (p.Pro53Thr)	rs199823855
NM_176810.2(NLRP13):c.1583G>A (p.Cys528Tyr)
NM_176810.2(NLRP13):c.166C>A (p.Pro56Thr)
NM_176810.2(NLRP13):c.1739A>G (p.Tyr580Cys)
NM_176810.2(NLRP13):c.1811T>G (p.Leu604Trp)
NM_176810.2(NLRP13):c.1839G>A (p.Met613Ile)	rs2514340047
NM_176810.2(NLRP13):c.1841A>C (p.Glu614Ala)
NM_176810.2(NLRP13):c.1869A>T (p.Leu623Phe)
NM_176810.2(NLRP13):c.1870G>A (p.Gly624Ser)
NM_176810.2(NLRP13):c.193C>T (p.Pro65Ser)	rs1340886696
NM_176810.2(NLRP13):c.1942G>C (p.Glu648Gln)	rs2514339836
NM_176810.2(NLRP13):c.1964T>C (p.Leu655Ser)	rs1986523480
NM_176810.2(NLRP13):c.2110G>A (p.Glu704Lys)
NM_176810.2(NLRP13):c.211C>A (p.Leu71Ile)	rs149110821
NM_176810.2(NLRP13):c.2146A>G (p.Asn716Asp)
NM_176810.2(NLRP13):c.2150G>A (p.Ser717Asn)
NM_176810.2(NLRP13):c.2246C>G (p.Ala749Gly)	rs375954901
NM_176810.2(NLRP13):c.2266A>G (p.Lys756Glu)
NM_176810.2(NLRP13):c.2291C>T (p.Ser764Leu)
NM_176810.2(NLRP13):c.2399T>C (p.Leu800Pro)	rs1414959758
NM_176810.2(NLRP13):c.247A>C (p.Lys83Gln)	rs1044840044
NM_176810.2(NLRP13):c.2504C>T (p.Thr835Ile)	rs2514332140
NM_176810.2(NLRP13):c.2609A>T (p.Glu870Val)
NM_176810.2(NLRP13):c.2630G>A (p.Cys877Tyr)
NM_176810.2(NLRP13):c.2685G>C (p.Arg895Ser)
NM_176810.2(NLRP13):c.26C>T (p.Pro9Leu)
NM_176810.2(NLRP13):c.2746T>C (p.Cys916Arg)
NM_176810.2(NLRP13):c.2813G>C (p.Arg938Thr)	rs1206481676
NM_176810.2(NLRP13):c.2822G>A (p.Cys941Tyr)
NM_176810.2(NLRP13):c.2855A>G (p.His952Arg)
NM_176810.2(NLRP13):c.2901T>A (p.Asp967Glu)	rs759401181
NM_176810.2(NLRP13):c.2902G>A (p.Gly968Arg)	rs2514323812
NM_176810.2(NLRP13):c.2918G>A (p.Cys973Tyr)
NM_176810.2(NLRP13):c.2935C>T (p.His979Tyr)
NM_176810.2(NLRP13):c.2962G>C (p.Ala988Pro)
NM_176810.2(NLRP13):c.3029T>C (p.Leu1010Pro)
NM_176810.2(NLRP13):c.326T>G (p.Val109Gly)	rs1986935079
NM_176810.2(NLRP13):c.362A>G (p.Asp121Gly)	rs2514354064
NM_176810.2(NLRP13):c.395T>C (p.Met132Thr)
NM_176810.2(NLRP13):c.542G>T (p.Arg181Ile)
NM_176810.2(NLRP13):c.718G>C (p.Gly240Arg)
NM_176810.2(NLRP13):c.71T>C (p.Leu24Pro)
NM_176810.2(NLRP13):c.791A>G (p.Tyr264Cys)	rs776218787
NM_176810.2(NLRP13):c.857C>T (p.Ser286Phe)	rs766031545
NM_176810.2(NLRP13):c.886A>G (p.Ile296Val)
NM_176810.2(NLRP13):c.96C>A (p.Phe32Leu)	rs756876652

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