List of variants in gene NHS reported as benign for Nance-Horan syndrome

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: 111

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HGVS	dbSNP	gnomAD frequency
NM_001291867.2(NHS):c.4018T>C (p.Phe1340Leu)	rs3747295	0.29823
NM_001291867.2(NHS):c.1714C>T (p.Pro572Ser)	rs150688899	0.06491
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser)	rs398124605	0.03116
NM_001291867.2(NHS):c.3201T>C (p.Ser1067=)	rs56908561	0.02903
NM_001291867.2(NHS):c.3204A>G (p.Leu1068=)	rs56691712	0.02899
NM_001291867.2(NHS):c.2831A>T (p.His944Leu)	rs149244552	0.00386
NM_001291867.2(NHS):c.3545C>T (p.Pro1182Leu)	rs145977627	0.00189
NM_001291867.2(NHS):c.2593G>A (p.Ala865Thr)	rs149609550	0.00131
NM_001291867.2(NHS):c.828G>A (p.Glu276=)	rs147497359	0.00096
NM_001291867.2(NHS):c.2330T>C (p.Phe777Ser)	rs143081492	0.00089
NM_001291867.2(NHS):c.4832G>C (p.Ser1611Thr)	rs140651691	0.00086
NM_001291867.2(NHS):c.765C>G (p.Pro255=)	rs143119491	0.00086
NM_001291867.2(NHS):c.688G>A (p.Ala230Thr)	rs78153843	0.00082
NM_001291867.2(NHS):c.4168G>A (p.Asp1390Asn)	rs142186771	0.00081
NM_001291867.2(NHS):c.2093G>A (p.Arg698Gln)	rs140904281	0.00075
NM_001291867.2(NHS):c.3929G>T (p.Gly1310Val)	rs41304731	0.00074
NM_001291867.2(NHS):c.1965T>G (p.Pro655=)	rs151009077	0.00069
NM_001291867.2(NHS):c.204A>G (p.Pro68=)	rs775588477	0.00069
NM_001291867.2(NHS):c.4436G>A (p.Ser1479Asn)	rs145200841	0.00056
NM_001291867.2(NHS):c.4666T>A (p.Ser1556Thr)	rs2071848	0.00055
NM_001291867.2(NHS):c.666C>T (p.Cys222=)	rs138104885	0.00055
NM_001291867.2(NHS):c.3374C>T (p.Ser1125Leu)	rs145005596	0.00053
NM_001291867.2(NHS):c.1596G>A (p.Glu532=)	rs146437542	0.00044
NM_001291867.2(NHS):c.258A>G (p.Gly86=)	rs1026332275	0.00038
NM_001291867.2(NHS):c.3785C>T (p.Thr1262Met)	rs141013518	0.00037
NM_001291867.2(NHS):c.1603G>A (p.Val535Met)	rs367856134	0.00028
NM_001291867.2(NHS):c.1748G>A (p.Arg583His)	rs143289369	0.00028
NM_001291867.2(NHS):c.513C>T (p.Leu171=)	rs398124610	0.00028
NM_001291867.2(NHS):c.322G>A (p.Glu108Lys)	rs773995388	0.00026
NM_001291867.2(NHS):c.3959T>C (p.Val1320Ala)	rs368703052	0.00026
NM_001291867.2(NHS):c.1919C>T (p.Thr640Met)	rs372391693	0.00019
NM_001291867.2(NHS):c.4051G>A (p.Asp1351Asn)	rs148418212	0.00019
NM_001291867.2(NHS):c.3310C>T (p.His1104Tyr)	rs201263814	0.00016
NM_001291867.2(NHS):c.1143C>T (p.Cys381=)	rs727504042	0.00012
NM_001291867.2(NHS):c.1228C>G (p.Gln410Glu)	rs375878222	0.00012
NM_001291867.2(NHS):c.2119G>T (p.Ala707Ser)	rs184275083	0.00012
NM_001291867.2(NHS):c.1760T>C (p.Met587Thr)	rs187739639	0.00011
NM_001291867.2(NHS):c.2905G>A (p.Ala969Thr)	rs762685365	0.00009
NM_001291867.2(NHS):c.766C>G (p.Leu256Val)	rs200598087	0.00009
NM_001291867.2(NHS):c.4082C>T (p.Ser1361Leu)	rs766379688	0.00008
NM_001291867.2(NHS):c.1175G>A (p.Arg392Gln)	rs372969054	0.00007
NM_001291867.2(NHS):c.2204G>A (p.Arg735His)	rs193921046	0.00006
NM_001291867.2(NHS):c.618G>A (p.Pro206=)	rs200952266	0.00005
NM_001291867.2(NHS):c.2663T>C (p.Met888Thr)	rs200321491	0.00004
NM_001291867.2(NHS):c.2791G>T (p.Asp931Tyr)	rs192848792	0.00004
NM_001291867.2(NHS):c.2047G>A (p.Val683Met)	rs587780403	0.00003
NM_001291867.2(NHS):c.2732A>G (p.Glu911Gly)	rs189687959	0.00003
NM_001291867.2(NHS):c.1929G>A (p.Ser643=)	rs143564715	0.00002
NM_001291867.2(NHS):c.2683G>A (p.Ala895Thr)	rs770236873	0.00002
NM_001291867.2(NHS):c.3141C>T (p.Pro1047=)	rs777688578	0.00002
NM_001291867.2(NHS):c.4043G>A (p.Arg1348His)	rs141525588	0.00002
NM_001291867.2(NHS):c.4153G>A (p.Ala1385Thr)	rs1192248368	0.00002
NM_001291867.2(NHS):c.612C>T (p.Arg204=)	rs777799752	0.00001
NM_001291867.2(NHS):c.*3008T>A
NM_001291867.2(NHS):c.1089T>C (p.Ile363=)
NM_001291867.2(NHS):c.1326C>T (p.Ser442=)
NM_001291867.2(NHS):c.1386G>A (p.Arg462=)
NM_001291867.2(NHS):c.1443C>G (p.Gly481=)
NM_001291867.2(NHS):c.1471G>A (p.Asp491Asn)
NM_001291867.2(NHS):c.1486C>A (p.Pro496Thr)
NM_001291867.2(NHS):c.1501C>T (p.Arg501Cys)	rs770144581
NM_001291867.2(NHS):c.1514G>A (p.Arg505Gln)
NM_001291867.2(NHS):c.1645C>T (p.Pro549Ser)
NM_001291867.2(NHS):c.1710C>T (p.His570=)
NM_001291867.2(NHS):c.1796A>G (p.Asn599Ser)
NM_001291867.2(NHS):c.1806G>A (p.Thr602=)
NM_001291867.2(NHS):c.1925C>A (p.Pro642His)
NM_001291867.2(NHS):c.1995G>A (p.Ser665=)
NM_001291867.2(NHS):c.207GCC[3] (p.Pro73del)	rs10590816
NM_001291867.2(NHS):c.2096C>T (p.Ala699Val)
NM_001291867.2(NHS):c.2225G>A (p.Arg742His)
NM_001291867.2(NHS):c.2261C>T (p.Thr754Ile)
NM_001291867.2(NHS):c.2448G>A (p.Gly816=)
NM_001291867.2(NHS):c.2592C>T (p.Asn864=)
NM_001291867.2(NHS):c.2682C>T (p.Phe894=)
NM_001291867.2(NHS):c.2688C>T (p.Asn896=)
NM_001291867.2(NHS):c.2720C>T (p.Pro907Leu)
NM_001291867.2(NHS):c.2749C>A (p.Gln917Lys)
NM_001291867.2(NHS):c.2762G>A (p.Gly921Asp)
NM_001291867.2(NHS):c.2789C>T (p.Ser930Leu)
NM_001291867.2(NHS):c.2880T>C (p.Tyr960=)
NM_001291867.2(NHS):c.2910G>A (p.Thr970=)
NM_001291867.2(NHS):c.2932A>G (p.Ile978Val)
NM_001291867.2(NHS):c.3049G>A (p.Gly1017Ser)
NM_001291867.2(NHS):c.3057A>G (p.Ala1019=)	rs751373846
NM_001291867.2(NHS):c.310_345del (p.Pro104_Ala115del)	rs797045741
NM_001291867.2(NHS):c.3132A>G (p.Pro1044=)
NM_001291867.2(NHS):c.3215C>T (p.Thr1072Ile)
NM_001291867.2(NHS):c.3666T>C (p.Thr1222=)
NM_001291867.2(NHS):c.3687C>T (p.Cys1229=)
NM_001291867.2(NHS):c.3828G>C (p.Arg1276Ser)
NM_001291867.2(NHS):c.3890A>G (p.Asp1297Gly)
NM_001291867.2(NHS):c.4030T>C (p.Phe1344Leu)
NM_001291867.2(NHS):c.4128G>C (p.Gln1376His)
NM_001291867.2(NHS):c.4167T>C (p.Ser1389=)	rs767452227
NM_001291867.2(NHS):c.4222+18T>C
NM_001291867.2(NHS):c.4314T>C (p.Pro1438=)
NM_001291867.2(NHS):c.4380T>C (p.Asp1460=)
NM_001291867.2(NHS):c.4428_4430dup (p.Ser1480dup)	rs398124609
NM_001291867.2(NHS):c.4536A>G (p.Thr1512=)
NM_001291867.2(NHS):c.4676G>C (p.Ser1559Thr)
NM_001291867.2(NHS):c.4858C>T (p.Arg1620Trp)
NM_001291867.2(NHS):c.565+17T>C
NM_001291867.2(NHS):c.566-10dup	rs5901624
NM_001291867.2(NHS):c.566-12C>T
NM_001291867.2(NHS):c.566-13_566-12insG
NM_001291867.2(NHS):c.667G>A (p.Val223Met)
NM_001291867.2(NHS):c.687C>T (p.His229=)
NM_001291867.2(NHS):c.819G>A (p.Arg273=)
NM_001291867.2(NHS):c.851C>T (p.Thr284Met)
NM_001291867.2(NHS):c.950T>C (p.Met317Thr)

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