ClinVar Miner

List of variants in gene NHS studied for Nance-Horan syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 337
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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.4937C>T (p.Ser1646Phe) rs374462247 0.00020
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.739C>T (p.Arg247Cys) rs369785842 0.00016
NM_001291867.2(NHS):c.1723A>G (p.Lys575Glu) rs199789055 0.00014
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.1163C>T (p.Ser388Leu) rs150689121 0.00009
NM_001291867.2(NHS):c.2709C>T (p.Asn903=) rs771010114 0.00009
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.2909C>T (p.Thr970Met) rs373464879 0.00008
NM_001291867.2(NHS):c.3786G>A (p.Thr1262=) rs150235442 0.00008
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.1327G>A (p.Gly443Arg) rs371229391 0.00006
NM_001291867.2(NHS):c.2204G>A (p.Arg735His) rs193921046 0.00006
NM_001291867.2(NHS):c.152C>T (p.Ala51Val) rs727504039 0.00005
NM_001291867.2(NHS):c.3515C>T (p.Thr1172Met) rs149099378 0.00005
NM_001291867.2(NHS):c.4871C>T (p.Thr1624Met) rs367919114 0.00005
NM_001291867.2(NHS):c.618G>A (p.Pro206=) rs200952266 0.00005
NM_001291867.2(NHS):c.966G>A (p.Pro322=) rs745327335 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.3479C>T (p.Thr1160Ile) rs752248694 0.00004
NM_001291867.2(NHS):c.4083G>A (p.Ser1361=) rs142564431 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.4860G>C (p.Arg1620=) rs761212213 0.00003
NM_001291867.2(NHS):c.1174C>T (p.Arg392Trp) rs746433521 0.00002
NM_001291867.2(NHS):c.1469G>T (p.Gly490Val) rs775816596 0.00002
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.2887C>T (p.Leu963=) rs757651281 0.00002
NM_001291867.2(NHS):c.3093G>A (p.Thr1031=) rs1157246576 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.484C>T (p.Arg162Cys) rs745648326 0.00002
NM_001291867.2(NHS):c.503A>G (p.Gln168Arg) rs769860109 0.00002
NM_001291867.2(NHS):c.2277T>C (p.Tyr759=) rs1323986389 0.00001
NM_001291867.2(NHS):c.3131C>T (p.Pro1044Leu) rs748149517 0.00001
NM_001291867.2(NHS):c.3891C>T (p.Asp1297=) rs761463158 0.00001
NM_001291867.2(NHS):c.612C>T (p.Arg204=) rs777799752 0.00001
NM_001291867.2(NHS):c.691C>T (p.Arg231Trp) rs749420963 0.00001
NM_001291867.2(NHS):c.692G>A (p.Arg231Gln) rs757440505 0.00001
NM_001291867.2(NHS):c.822G>A (p.Arg274=) rs1192420369 0.00001
NC_000023.10:g.(?_17393861)_(17653740_?)del
NC_000023.10:g.(?_17393861)_(17753592_?)del
NC_000023.10:g.(?_17393881)_(17710608_?)dup
NC_000023.10:g.(?_17705842)_(17710608_?)del
NC_000023.10:g.(?_17710435)_(17750584_?)del
NC_000023.11:g.(?_17687722)_(17692488_?)dup
NC_000023.11:g.(?_17692315)_(17692488_?)del
NM_001291867.2(NHS):c.*3008T>A
NM_001291867.2(NHS):c.100C>A (p.Pro34Thr)
NM_001291867.2(NHS):c.1035C>T (p.Leu345=)
NM_001291867.2(NHS):c.1041G>A (p.Thr347=)
NM_001291867.2(NHS):c.106C>T (p.Pro36Ser)
NM_001291867.2(NHS):c.1074G>A (p.Val358=) rs2066406785
NM_001291867.2(NHS):c.1084del (p.Cys362fs)
NM_001291867.2(NHS):c.1089T>C (p.Ile363=)
NM_001291867.2(NHS):c.1105dup (p.Thr369fs) rs2066406973
NM_001291867.2(NHS):c.1108+3A>T
NM_001291867.2(NHS):c.1108G>A (p.Gly370Arg) rs727504041
NM_001291867.2(NHS):c.1109-18C>A
NM_001291867.2(NHS):c.1120G>A (p.Asp374Asn)
NM_001291867.2(NHS):c.1122C>T (p.Asp374=)
NM_001291867.2(NHS):c.1131T>A (p.Ala377=)
NM_001291867.2(NHS):c.1150G>A (p.Val384Ile)
NM_001291867.2(NHS):c.1159C>T (p.Gln387Ter) rs2147140951
NM_001291867.2(NHS):c.115C>T (p.Gln39Ter) rs104894881
NM_001291867.2(NHS):c.1160A>G (p.Gln387Arg) rs2147140956
NM_001291867.2(NHS):c.1180C>T (p.Arg394Ter) rs132630322
NM_001291867.2(NHS):c.1190GGA[2] (p.Arg399del)
NM_001291867.2(NHS):c.1203C>T (p.Thr401=)
NM_001291867.2(NHS):c.1208C>T (p.Ser403Leu)
NM_001291867.2(NHS):c.120G>T (p.Pro40=)
NM_001291867.2(NHS):c.1231C>T (p.Gln411Ter) rs1556038028
NM_001291867.2(NHS):c.1246G>C (p.Asp416His)
NM_001291867.2(NHS):c.1301C>A (p.Pro434His)
NM_001291867.2(NHS):c.1326C>T (p.Ser442=)
NM_001291867.2(NHS):c.134dup (p.Asp45fs)
NM_001291867.2(NHS):c.136C>G (p.Leu46Val)
NM_001291867.2(NHS):c.1386G>A (p.Arg462=)
NM_001291867.2(NHS):c.1441G>A (p.Gly481Ser)
NM_001291867.2(NHS):c.1443C>G (p.Gly481=)
NM_001291867.2(NHS):c.1462_1465del (p.Asp488fs) rs1556038355
NM_001291867.2(NHS):c.1466A>G (p.Lys489Arg)
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.1502G>A (p.Arg501His)
NM_001291867.2(NHS):c.1514G>A (p.Arg505Gln)
NM_001291867.2(NHS):c.1517G>A (p.Ser506Asn)
NM_001291867.2(NHS):c.1527G>A (p.Arg509=)
NM_001291867.2(NHS):c.1532G>T (p.Gly511Val)
NM_001291867.2(NHS):c.1543G>A (p.Gly515Arg)
NM_001291867.2(NHS):c.1566C>T (p.Gly522=)
NM_001291867.2(NHS):c.1574C>G (p.Pro525Arg)
NM_001291867.2(NHS):c.1645C>T (p.Pro549Ser)
NM_001291867.2(NHS):c.1647A>G (p.Pro549=)
NM_001291867.2(NHS):c.165G>A (p.Glu55=)
NM_001291867.2(NHS):c.1674G>A (p.Gln558=)
NM_001291867.2(NHS):c.1674G>C (p.Gln558His)
NM_001291867.2(NHS):c.1691C>T (p.Ala564Val)
NM_001291867.2(NHS):c.1710C>T (p.His570=)
NM_001291867.2(NHS):c.1732G>A (p.Glu578Lys)
NM_001291867.2(NHS):c.176_177delinsAA (p.Arg59Gln) rs797045739
NM_001291867.2(NHS):c.1793C>T (p.Ser598Phe)
NM_001291867.2(NHS):c.1796A>G (p.Asn599Ser)
NM_001291867.2(NHS):c.1806G>A (p.Thr602=)
NM_001291867.2(NHS):c.1824C>T (p.His608=)
NM_001291867.2(NHS):c.1835C>T (p.Thr612Met)
NM_001291867.2(NHS):c.183C>T (p.Val61=)
NM_001291867.2(NHS):c.1843G>A (p.Val615Ile)
NM_001291867.2(NHS):c.1895G>C (p.Gly632Ala)
NM_001291867.2(NHS):c.1903A>G (p.Ser635Gly)
NM_001291867.2(NHS):c.190C>T (p.Pro64Ser)
NM_001291867.2(NHS):c.1925C>A (p.Pro642His)
NM_001291867.2(NHS):c.1928C>T (p.Ser643Leu)
NM_001291867.2(NHS):c.197G>C (p.Gly66Ala)
NM_001291867.2(NHS):c.1994C>T (p.Ser665Leu)
NM_001291867.2(NHS):c.1995G>A (p.Ser665=)
NM_001291867.2(NHS):c.1997A>G (p.Glu666Gly)
NM_001291867.2(NHS):c.206C>G (p.Pro69Arg)
NM_001291867.2(NHS):c.207GCC[3] (p.Pro73del) rs10590816
NM_001291867.2(NHS):c.2096C>T (p.Ala699Val)
NM_001291867.2(NHS):c.2131G>C (p.Asp711His)
NM_001291867.2(NHS):c.2141ACA[1] (p.Asn715del)
NM_001291867.2(NHS):c.2188C>T (p.His730Tyr)
NM_001291867.2(NHS):c.2225G>A (p.Arg742His)
NM_001291867.2(NHS):c.2261C>T (p.Thr754Ile)
NM_001291867.2(NHS):c.2297C>T (p.Ser766Phe)
NM_001291867.2(NHS):c.2322C>T (p.Ser774=)
NM_001291867.2(NHS):c.2327_2328del (p.His776fs) rs2066444344
NM_001291867.2(NHS):c.2371G>T (p.Asp791Tyr)
NM_001291867.2(NHS):c.2448G>A (p.Gly816=)
NM_001291867.2(NHS):c.2450dup (p.Ser818fs) rs786205255
NM_001291867.2(NHS):c.2477G>A (p.Trp826Ter) rs1569319773
NM_001291867.2(NHS):c.2512C>T (p.Pro838Ser)
NM_001291867.2(NHS):c.2546C>T (p.Pro849Leu)
NM_001291867.2(NHS):c.2573T>C (p.Leu858Ser)
NM_001291867.2(NHS):c.2592C>T (p.Asn864=)
NM_001291867.2(NHS):c.2669T>C (p.Leu890Pro)
NM_001291867.2(NHS):c.267C>T (p.Ser89=)
NM_001291867.2(NHS):c.2682C>T (p.Phe894=)
NM_001291867.2(NHS):c.2688C>T (p.Asn896=)
NM_001291867.2(NHS):c.2690C>T (p.Thr897Met)
NM_001291867.2(NHS):c.2714A>G (p.Asn905Ser)
NM_001291867.2(NHS):c.2720C>T (p.Pro907Leu)
NM_001291867.2(NHS):c.2721C>T (p.Pro907=)
NM_001291867.2(NHS):c.2723C>T (p.Thr908Ile)
NM_001291867.2(NHS):c.2749C>A (p.Gln917Lys)
NM_001291867.2(NHS):c.2762G>A (p.Gly921Asp)
NM_001291867.2(NHS):c.277G>T (p.Glu93Ter) rs1341004065
NM_001291867.2(NHS):c.2789C>T (p.Ser930Leu)
NM_001291867.2(NHS):c.2806A>G (p.Lys936Glu)
NM_001291867.2(NHS):c.2820C>T (p.Ala940=)
NM_001291867.2(NHS):c.2821G>A (p.Glu941Lys)
NM_001291867.2(NHS):c.2880T>C (p.Tyr960=)
NM_001291867.2(NHS):c.2897C>A (p.Ser966Ter)
NM_001291867.2(NHS):c.2910G>A (p.Thr970=)
NM_001291867.2(NHS):c.2932A>G (p.Ile978Val)
NM_001291867.2(NHS):c.2963C>G (p.Thr988Arg)
NM_001291867.2(NHS):c.3021del (p.Phe1007fs)
NM_001291867.2(NHS):c.302A>C (p.Glu101Ala)
NM_001291867.2(NHS):c.302_337dup (p.Glu101_Ala112dup) rs398124607
NM_001291867.2(NHS):c.3049G>A (p.Gly1017Ser)
NM_001291867.2(NHS):c.3057A>G (p.Ala1019=) rs751373846
NM_001291867.2(NHS):c.309G>T (p.Ala103=)
NM_001291867.2(NHS):c.309_350del (p.Pro104_Ala117del) rs1382204112
NM_001291867.2(NHS):c.310_342del (p.Pro104_Ala114del)
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.3151A>C (p.Lys1051Gln)
NM_001291867.2(NHS):c.3215C>T (p.Thr1072Ile)
NM_001291867.2(NHS):c.3274_3276dup (p.Ser1092_Ala1093insSer)
NM_001291867.2(NHS):c.3285del (p.His1095fs) rs2066454000
NM_001291867.2(NHS):c.3297C>T (p.Asn1099=)
NM_001291867.2(NHS):c.3307_3323del (p.His1103fs)
NM_001291867.2(NHS):c.3313C>T (p.Arg1105Cys)
NM_001291867.2(NHS):c.3314G>A (p.Arg1105His)
NM_001291867.2(NHS):c.333GGC[5] (p.Ala117del) rs587780401
NM_001291867.2(NHS):c.333GGC[7] (p.Ala117dup) rs587780401
NM_001291867.2(NHS):c.333GGC[8] (p.Ala117_Val118insAlaAla)
NM_001291867.2(NHS):c.3351C>T (p.Asn1117=)
NM_001291867.2(NHS):c.3375G>A (p.Ser1125=)
NM_001291867.2(NHS):c.3385C>G (p.Pro1129Ala)
NM_001291867.2(NHS):c.3386C>A (p.Pro1129Gln)
NM_001291867.2(NHS):c.3387G>A (p.Pro1129=)
NM_001291867.2(NHS):c.3397A>G (p.Ile1133Val)
NM_001291867.2(NHS):c.339G>T (p.Ala113=) rs1364463762
NM_001291867.2(NHS):c.3407C>T (p.Thr1136Met)
NM_001291867.2(NHS):c.3408G>C (p.Thr1136=)
NM_001291867.2(NHS):c.3456T>C (p.Val1152=)
NM_001291867.2(NHS):c.3505A>C (p.Thr1169Pro)
NM_001291867.2(NHS):c.3522del (p.Leu1175fs) rs786205256
NM_001291867.2(NHS):c.3532A>G (p.Ser1178Gly)
NM_001291867.2(NHS):c.3611_3612delinsGA (p.Asp1204Gly)
NM_001291867.2(NHS):c.3628A>G (p.Met1210Val)
NM_001291867.2(NHS):c.3658_3662del (p.Asn1220fs) rs1601859570
NM_001291867.2(NHS):c.3659dup (p.Asn1220fs)
NM_001291867.2(NHS):c.3666T>C (p.Thr1222=)
NM_001291867.2(NHS):c.366G>A (p.Leu122=)
NM_001291867.2(NHS):c.3687C>T (p.Cys1229=)
NM_001291867.2(NHS):c.3689A>G (p.Asp1230Gly)
NM_001291867.2(NHS):c.372dup (p.Cys125fs)
NM_001291867.2(NHS):c.3745G>A (p.Asp1249Asn)
NM_001291867.2(NHS):c.375C>A (p.Cys125Ter) rs2064345759
NM_001291867.2(NHS):c.3792C>A (p.Thr1264=)
NM_001291867.2(NHS):c.3801_3802del (p.Ala1268fs)
NM_001291867.2(NHS):c.3827G>A (p.Arg1276Lys)
NM_001291867.2(NHS):c.3828G>C (p.Arg1276Ser)
NM_001291867.2(NHS):c.3842G>A (p.Arg1281His)
NM_001291867.2(NHS):c.3890A>G (p.Asp1297Gly)
NM_001291867.2(NHS):c.3933G>C (p.Leu1311=)
NM_001291867.2(NHS):c.3937del (p.Glu1313fs)
NM_001291867.2(NHS):c.3979_3982del (p.Ser1327fs) rs2147145062
NM_001291867.2(NHS):c.3993T>G (p.Thr1331=)
NM_001291867.2(NHS):c.4030T>C (p.Phe1344Leu)
NM_001291867.2(NHS):c.4031T>G (p.Phe1344Cys)
NM_001291867.2(NHS):c.408C>T (p.Leu136=) rs1555981412
NM_001291867.2(NHS):c.410G>C (p.Arg137Pro)
NM_001291867.2(NHS):c.4110T>C (p.Pro1370=)
NM_001291867.2(NHS):c.4118G>A (p.Cys1373Tyr)
NM_001291867.2(NHS):c.4121C>G (p.Ser1374Cys)
NM_001291867.2(NHS):c.4128G>C (p.Gln1376His)
NM_001291867.2(NHS):c.4156A>T (p.Lys1386Ter) rs1556039901
NM_001291867.2(NHS):c.4167T>C (p.Ser1389=) rs767452227
NM_001291867.2(NHS):c.4186G>A (p.Glu1396Lys)
NM_001291867.2(NHS):c.4222+18T>C
NM_001291867.2(NHS):c.4223-12T>C
NM_001291867.2(NHS):c.4233G>A (p.Pro1411=)
NM_001291867.2(NHS):c.424G>C (p.Val142Leu)
NM_001291867.2(NHS):c.4263T>C (p.Ser1421=)
NM_001291867.2(NHS):c.4314T>C (p.Pro1438=)
NM_001291867.2(NHS):c.4315C>T (p.Arg1439Ter) rs2147145827
NM_001291867.2(NHS):c.4380T>C (p.Asp1460=)
NM_001291867.2(NHS):c.4417C>A (p.Pro1473Thr)
NM_001291867.2(NHS):c.4428_4430dup (p.Ser1480dup) rs398124609
NM_001291867.2(NHS):c.4429AGC[3] (p.Ser1480del)
NM_001291867.2(NHS):c.4464C>T (p.Ser1488=)
NM_001291867.2(NHS):c.447C>G (p.Leu149=)
NM_001291867.2(NHS):c.4513C>T (p.Arg1505Ter)
NM_001291867.2(NHS):c.4536A>G (p.Thr1512=)
NM_001291867.2(NHS):c.4540A>G (p.Asn1514Asp)
NM_001291867.2(NHS):c.4582T>C (p.Ser1528Pro) rs2066491321
NM_001291867.2(NHS):c.4627C>A (p.Pro1543Thr)
NM_001291867.2(NHS):c.4637C>A (p.Pro1546His)
NM_001291867.2(NHS):c.4676G>C (p.Ser1559Thr)
NM_001291867.2(NHS):c.4699T>C (p.Ser1567Pro)
NM_001291867.2(NHS):c.4780G>A (p.Ala1594Thr)
NM_001291867.2(NHS):c.4824T>C (p.Pro1608=)
NM_001291867.2(NHS):c.4858C>T (p.Arg1620Trp)
NM_001291867.2(NHS):c.4882G>A (p.Ala1628Thr) rs2066494567
NM_001291867.2(NHS):c.490G>A (p.Val164Ile)
NM_001291867.2(NHS):c.4929C>T (p.Asp1643=)
NM_001291867.2(NHS):c.502C>T (p.Gln168Ter) rs1484691355
NM_001291867.2(NHS):c.50_53del (p.Arg17fs) rs2146834311
NM_001291867.2(NHS):c.517G>A (p.Gly173Ser)
NM_001291867.2(NHS):c.554A>G (p.Gln185Arg)
NM_001291867.2(NHS):c.565+17T>C
NM_001291867.2(NHS):c.565+5G>A rs1064795101
NM_001291867.2(NHS):c.566-100130A>C rs2146987459
NM_001291867.2(NHS):c.566-10dup rs5901624
NM_001291867.2(NHS):c.566-12C>T
NM_001291867.2(NHS):c.566-13_566-12insA
NM_001291867.2(NHS):c.566-13_566-12insG
NM_001291867.2(NHS):c.567C>T (p.Pro189=)
NM_001291867.2(NHS):c.597G>C (p.Leu199=)
NM_001291867.2(NHS):c.608A>G (p.Tyr203Cys)
NM_001291867.2(NHS):c.610C>T (p.Arg204Cys)
NM_001291867.2(NHS):c.611G>A (p.Arg204His)
NM_001291867.2(NHS):c.613G>A (p.Ala205Thr)
NM_001291867.2(NHS):c.667G>A (p.Val223Met)
NM_001291867.2(NHS):c.687C>T (p.His229=)
NM_001291867.2(NHS):c.694C>T (p.Gln232Ter) rs875989805
NM_001291867.2(NHS):c.718+13G>A
NM_001291867.2(NHS):c.718+1dup rs1556030707
NM_001291867.2(NHS):c.719-1G>A rs1601838818
NM_001291867.2(NHS):c.719-3C>T
NM_001291867.2(NHS):c.719-9C>G
NM_001291867.2(NHS):c.736G>T (p.Asp246Tyr)
NM_001291867.2(NHS):c.742C>T (p.Arg248Ter) rs1569310232
NM_001291867.2(NHS):c.766dup (p.Leu256fs) rs2147115316
NM_001291867.2(NHS):c.779C>T (p.Ala260Val) rs1254733025
NM_001291867.2(NHS):c.814C>T (p.Gln272Ter) rs1569310288
NM_001291867.2(NHS):c.819G>A (p.Arg273=)
NM_001291867.2(NHS):c.81G>C (p.Ala27=)
NM_001291867.2(NHS):c.824G>A (p.Arg275His)
NM_001291867.2(NHS):c.839G>A (p.Arg280His)
NM_001291867.2(NHS):c.844T>G (p.Phe282Val)
NM_001291867.2(NHS):c.851C>T (p.Thr284Met)
NM_001291867.2(NHS):c.852+1del rs786205677
NM_001291867.2(NHS):c.86G>T (p.Gly29Val)
NM_001291867.2(NHS):c.86del (p.Gly29fs)
NM_001291867.2(NHS):c.916-17T>C
NM_001291867.2(NHS):c.916-2A>G rs786205257
NM_001291867.2(NHS):c.916-2A>T rs786205257
NM_001291867.2(NHS):c.950T>C (p.Met317Thr)
NM_001291867.2(NHS):c.965C>T (p.Pro322Leu)
NM_001291867.2(NHS):c.976A>G (p.Ile326Val)
NM_001291867.2(NHS):c.[107C>G;111del]

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