ClinVar Miner

List of variants in gene HPS4 reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 432
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022081.6(HPS4):c.-530A>G rs3747137 0.11724
NM_022081.6(HPS4):c.558G>A (p.Ser186=) rs13054747 0.03591
NM_022081.6(HPS4):c.706+222C>T rs6005054 0.02309
NM_022081.6(HPS4):c.1899C>T (p.Val633=) rs35993959 0.01542
NM_022081.6(HPS4):c.1714-244dup rs199571343 0.01117
NM_022081.6(HPS4):c.276+105C>T rs115251191 0.00827
NM_022081.6(HPS4):c.1962C>T (p.Ala654=) rs9625029 0.00810
NM_022081.6(HPS4):c.1956-32T>C rs189953957 0.00756
NM_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675 0.00306
NM_022081.6(HPS4):c.1883G>A (p.Arg628His) rs78892693 0.00257
NM_022081.6(HPS4):c.*1589C>A rs117397456 0.00238
NM_022081.6(HPS4):c.696G>A (p.Pro232=) rs3747132 0.00237
NM_022081.6(HPS4):c.15C>T (p.Thr5=) rs144622501 0.00193
NM_022081.6(HPS4):c.1396C>T (p.Arg466Cys) rs147435410 0.00184
NM_022081.6(HPS4):c.-185A>G rs188205202 0.00154
NM_022081.6(HPS4):c.1700C>T (p.Ala567Val) rs140234219 0.00153
NM_022081.6(HPS4):c.445A>G (p.Asn149Asp) rs140430822 0.00151
NM_022081.6(HPS4):c.190G>A (p.Val64Ile) rs147680141 0.00142
NM_022081.6(HPS4):c.557C>T (p.Ser186Leu) rs61729175 0.00112
NM_022081.6(HPS4):c.1543T>C (p.Cys515Arg) rs148134252 0.00092
NM_022081.6(HPS4):c.888C>T (p.Asn296=) rs138343171 0.00086
NM_022081.6(HPS4):c.593G>A (p.Gly198Glu) rs199965734 0.00058
NM_022081.6(HPS4):c.618G>A (p.Pro206=) rs139165558 0.00043
NM_022081.6(HPS4):c.*751G>A rs190837977 0.00039
NM_022081.6(HPS4):c.804-16C>G rs367811711 0.00039
NM_022081.6(HPS4):c.266A>T (p.Asp89Val) rs551412746 0.00038
NM_022081.6(HPS4):c.1192A>C (p.Arg398=) rs375655372 0.00023
NM_022081.6(HPS4):c.133-6C>T rs571184796 0.00021
NM_022081.6(HPS4):c.1680G>A (p.Pro560=) rs527653764 0.00017
NM_022081.6(HPS4):c.1959T>C (p.Asn653=) rs202120615 0.00015
NM_022081.6(HPS4):c.1767G>A (p.Thr589=) rs541601069 0.00011
NM_022081.6(HPS4):c.922A>G (p.Thr308Ala) rs150057646 0.00011
NM_022081.6(HPS4):c.1679C>T (p.Pro560Leu) rs143902143 0.00010
NM_022081.6(HPS4):c.1793C>T (p.Thr598Met) rs149689335 0.00009
NM_022081.6(HPS4):c.373C>G (p.Leu125Val) rs180729981 0.00009
NM_022081.6(HPS4):c.1014C>T (p.Pro338=) rs188300485 0.00006
NM_022081.6(HPS4):c.1092A>G (p.Gln364=) rs369393785 0.00006
NM_022081.6(HPS4):c.1857G>A (p.Pro619=) rs373421312 0.00005
NM_022081.6(HPS4):c.39G>A (p.Ser13=) rs766139027 0.00005
NM_022081.6(HPS4):c.13A>G (p.Thr5Ala) rs570371168 0.00004
NM_022081.6(HPS4):c.570C>T (p.Leu190=) rs201820144 0.00004
NM_022081.6(HPS4):c.1788C>G (p.Ala596=) rs770733264 0.00003
NM_022081.6(HPS4):c.1846+8C>T rs754899131 0.00003
NM_022081.6(HPS4):c.1950T>G (p.Thr650=) rs750963690 0.00003
NM_022081.6(HPS4):c.2004A>G (p.Thr668=) rs746961193 0.00003
NM_022081.6(HPS4):c.1455G>A (p.Thr485=) rs756215705 0.00002
NM_022081.6(HPS4):c.1640G>C (p.Cys547Ser) rs145674158 0.00002
NM_022081.6(HPS4):c.1641C>T (p.Cys547=) rs199740072 0.00002
NM_022081.6(HPS4):c.1955+19C>T rs914172192 0.00002
NM_022081.6(HPS4):c.1977C>T (p.Tyr659=) rs144248515 0.00002
NM_022081.6(HPS4):c.2079C>T (p.Ser693=) rs138189133 0.00002
NM_022081.6(HPS4):c.384+13G>A rs747367325 0.00002
NM_022081.6(HPS4):c.429C>T (p.Ile143=) rs151105857 0.00002
NM_022081.6(HPS4):c.501+18_501+20del rs747815226 0.00002
NM_022081.6(HPS4):c.502-6G>A rs747906892 0.00002
NM_022081.6(HPS4):c.504G>A (p.Val168=) rs754902386 0.00002
NM_022081.6(HPS4):c.1411T>C (p.Leu471=) rs549290787 0.00001
NM_022081.6(HPS4):c.1428A>G (p.Pro476=) rs1416213145 0.00001
NM_022081.6(HPS4):c.1509C>A (p.Ala503=) rs761956374 0.00001
NM_022081.6(HPS4):c.1524C>T (p.Cys508=) rs775820827 0.00001
NM_022081.6(HPS4):c.1605C>T (p.Cys535=) rs1230780812 0.00001
NM_022081.6(HPS4):c.1692C>T (p.Asp564=) rs759632995 0.00001
NM_022081.6(HPS4):c.1758G>A (p.Leu586=) rs1356334936 0.00001
NM_022081.6(HPS4):c.1890C>T (p.Leu630=) rs201385335 0.00001
NM_022081.6(HPS4):c.1914C>T (p.Ser638=) rs765753447 0.00001
NM_022081.6(HPS4):c.2028A>G (p.Ala676=) rs750947119 0.00001
NM_022081.6(HPS4):c.2040C>T (p.Ser680=) rs752931351 0.00001
NM_022081.6(HPS4):c.27A>T (p.Ala9=) rs747194252 0.00001
NM_022081.6(HPS4):c.381T>C (p.Tyr127=) rs769488831 0.00001
NM_022081.6(HPS4):c.411G>A (p.Thr137=) rs375462083 0.00001
NM_022081.6(HPS4):c.597-15T>C rs745761056 0.00001
NM_022081.6(HPS4):c.615C>G (p.Leu205=) rs1444292220 0.00001
NM_022081.6(HPS4):c.687G>A (p.Glu229=) rs758547221 0.00001
NM_022081.6(HPS4):c.702A>G (p.Glu234=) rs2088583182 0.00001
NM_022081.6(HPS4):c.711G>A (p.Ala237=) rs1416025424 0.00001
NM_022081.6(HPS4):c.765C>T (p.Ala255=) rs886057318 0.00001
NM_022081.6(HPS4):c.78A>G (p.Val26=) rs751062699 0.00001
NM_022081.6(HPS4):c.81G>A (p.Lys27=) rs763708665 0.00001
NM_022081.6(HPS4):c.885A>G (p.Glu295=) rs759660620 0.00001
NM_022081.6(HPS4):c.930T>C (p.Asp310=) rs1210344296 0.00001
NM_022081.6(HPS4):c.1011G>A (p.Arg337=)
NM_022081.6(HPS4):c.1017A>G (p.Ala339=)
NM_022081.6(HPS4):c.1032T>G (p.Ser344=)
NM_022081.6(HPS4):c.1041T>A (p.Gly347=)
NM_022081.6(HPS4):c.1059C>T (p.Ser353=)
NM_022081.6(HPS4):c.1062C>A (p.Ser354=)
NM_022081.6(HPS4):c.1071G>T (p.Gly357=)
NM_022081.6(HPS4):c.1083C>G (p.Val361=)
NM_022081.6(HPS4):c.1089C>A (p.Leu363=)
NM_022081.6(HPS4):c.108C>T (p.Gly36=)
NM_022081.6(HPS4):c.1101C>G (p.Leu367=)
NM_022081.6(HPS4):c.1101C>T (p.Leu367=)
NM_022081.6(HPS4):c.1113A>G (p.Glu371=)
NM_022081.6(HPS4):c.1116C>T (p.Ile372=)
NM_022081.6(HPS4):c.1124C>G (p.Pro375Arg) rs558884663
NM_022081.6(HPS4):c.1134G>A (p.Gln378=)
NM_022081.6(HPS4):c.1149C>T (p.Ala383=) rs996720116
NM_022081.6(HPS4):c.1155T>C (p.Gly385=)
NM_022081.6(HPS4):c.1164C>T (p.Ala388=)
NM_022081.6(HPS4):c.1170A>G (p.Leu390=)
NM_022081.6(HPS4):c.1176G>A (p.Val392=)
NM_022081.6(HPS4):c.1191C>T (p.Gly397=)
NM_022081.6(HPS4):c.1194G>A (p.Arg398=)
NM_022081.6(HPS4):c.1197T>A (p.Ala399=)
NM_022081.6(HPS4):c.1212A>G (p.Ala404=)
NM_022081.6(HPS4):c.1218C>G (p.Leu406=)
NM_022081.6(HPS4):c.1221C>T (p.Ser407=)
NM_022081.6(HPS4):c.1224C>T (p.Ala408=)
NM_022081.6(HPS4):c.1234C>T (p.Leu412=)
NM_022081.6(HPS4):c.123T>C (p.Tyr41=)
NM_022081.6(HPS4):c.1242C>G (p.Pro414=)
NM_022081.6(HPS4):c.1245G>A (p.Thr415=)
NM_022081.6(HPS4):c.126T>C (p.Pro42=)
NM_022081.6(HPS4):c.1278C>T (p.Arg426=)
NM_022081.6(HPS4):c.1284C>T (p.Pro428=)
NM_022081.6(HPS4):c.1305C>T (p.Thr435=)
NM_022081.6(HPS4):c.132+10A>G
NM_022081.6(HPS4):c.132+10A>T
NM_022081.6(HPS4):c.132+12A>G
NM_022081.6(HPS4):c.132+13G>A
NM_022081.6(HPS4):c.132+20A>G
NM_022081.6(HPS4):c.132+8A>G
NM_022081.6(HPS4):c.132+9C>T
NM_022081.6(HPS4):c.1320A>G (p.Gln440=)
NM_022081.6(HPS4):c.1329C>G (p.Leu443=)
NM_022081.6(HPS4):c.1329C>T (p.Leu443=)
NM_022081.6(HPS4):c.133-14C>G
NM_022081.6(HPS4):c.133-20A>C
NM_022081.6(HPS4):c.133-4A>C rs767589441
NM_022081.6(HPS4):c.133-5C>T
NM_022081.6(HPS4):c.1341T>G (p.Pro447=)
NM_022081.6(HPS4):c.1344C>A (p.Gly448=)
NM_022081.6(HPS4):c.1353C>T (p.Ser451=)
NM_022081.6(HPS4):c.1368C>T (p.Pro456=)
NM_022081.6(HPS4):c.1383C>A (p.Leu461=)
NM_022081.6(HPS4):c.1383C>T (p.Leu461=)
NM_022081.6(HPS4):c.1386C>T (p.Pro462=)
NM_022081.6(HPS4):c.1389A>G (p.Arg463=)
NM_022081.6(HPS4):c.138G>T (p.Leu46=)
NM_022081.6(HPS4):c.1395C>A (p.Thr465=) rs372027593
NM_022081.6(HPS4):c.1395C>G (p.Thr465=)
NM_022081.6(HPS4):c.1399A>C (p.Arg467=)
NM_022081.6(HPS4):c.1413G>A (p.Leu471=)
NM_022081.6(HPS4):c.1419C>A (p.Arg473=)
NM_022081.6(HPS4):c.1419C>T (p.Arg473=)
NM_022081.6(HPS4):c.141A>G (p.Leu47=)
NM_022081.6(HPS4):c.1458G>A (p.Gly486=)
NM_022081.6(HPS4):c.147A>G (p.Gln49=)
NM_022081.6(HPS4):c.1488G>A (p.Gly496=)
NM_022081.6(HPS4):c.1503C>T (p.His501=)
NM_022081.6(HPS4):c.150G>A (p.Gln50=)
NM_022081.6(HPS4):c.1521A>G (p.Glu507=) rs2146541413
NM_022081.6(HPS4):c.1530A>G (p.Ser510=)
NM_022081.6(HPS4):c.1536A>T (p.Ser512=)
NM_022081.6(HPS4):c.1539A>G (p.Ala513=)
NM_022081.6(HPS4):c.153G>A (p.Glu51=)
NM_022081.6(HPS4):c.1548G>A (p.Gln516=)
NM_022081.6(HPS4):c.154T>C (p.Leu52=)
NM_022081.6(HPS4):c.1554T>C (p.Ala518=)
NM_022081.6(HPS4):c.1557C>T (p.Gly519=)
NM_022081.6(HPS4):c.1560C>T (p.Pro520=)
NM_022081.6(HPS4):c.1563T>C (p.Ser521=)
NM_022081.6(HPS4):c.1581C>T (p.Ser527=)
NM_022081.6(HPS4):c.1596A>G (p.Ala532=)
NM_022081.6(HPS4):c.1602C>T (p.Ser534=)
NM_022081.6(HPS4):c.1611G>T (p.Gly537=)
NM_022081.6(HPS4):c.1614C>T (p.Leu538=)
NM_022081.6(HPS4):c.1632C>T (p.Tyr544=)
NM_022081.6(HPS4):c.1635T>A (p.Thr545=)
NM_022081.6(HPS4):c.1635T>C (p.Thr545=)
NM_022081.6(HPS4):c.1638C>T (p.His546=)
NM_022081.6(HPS4):c.1650G>A (p.Gly550=)
NM_022081.6(HPS4):c.1656G>T (p.Val552=)
NM_022081.6(HPS4):c.1659G>A (p.Leu553=)
NM_022081.6(HPS4):c.1677G>A (p.Glu559=)
NM_022081.6(HPS4):c.1686G>T (p.Leu562=)
NM_022081.6(HPS4):c.1695C>T (p.Ser565=)
NM_022081.6(HPS4):c.1701C>T (p.Ala567=)
NM_022081.6(HPS4):c.1707G>A (p.Glu569=)
NM_022081.6(HPS4):c.1710A>G (p.Glu570=)
NM_022081.6(HPS4):c.1713+17C>G
NM_022081.6(HPS4):c.1713+19T>C
NM_022081.6(HPS4):c.1713+19_1713+21del
NM_022081.6(HPS4):c.1713+19del rs748839497
NM_022081.6(HPS4):c.1713+20C>T rs2146533235
NM_022081.6(HPS4):c.1713+8T>A rs1601895754
NM_022081.6(HPS4):c.1714-10C>G
NM_022081.6(HPS4):c.1714-11C>G
NM_022081.6(HPS4):c.1714-126_1714-113del
NM_022081.6(HPS4):c.1714-13T>C
NM_022081.6(HPS4):c.1714-16C>T
NM_022081.6(HPS4):c.1714-17C>T
NM_022081.6(HPS4):c.1714-18C>T
NM_022081.6(HPS4):c.1714-245del rs370283156
NM_022081.6(HPS4):c.1714-261dup rs370283156
NM_022081.6(HPS4):c.1714-8C>G
NM_022081.6(HPS4):c.1714-8C>T
NM_022081.6(HPS4):c.1714-9C>A
NM_022081.6(HPS4):c.1731T>G (p.Ala577=)
NM_022081.6(HPS4):c.1735C>T (p.Leu579=)
NM_022081.6(HPS4):c.1744C>T (p.Leu582=)
NM_022081.6(HPS4):c.1752C>T (p.Val584=)
NM_022081.6(HPS4):c.1768C>T (p.Leu590=)
NM_022081.6(HPS4):c.1770G>A (p.Leu590=)
NM_022081.6(HPS4):c.177A>C (p.Gly59=) rs886057320
NM_022081.6(HPS4):c.1782G>A (p.Glu594=)
NM_022081.6(HPS4):c.1785A>G (p.Ala595=)
NM_022081.6(HPS4):c.1794G>A (p.Thr598=)
NM_022081.6(HPS4):c.1794G>C (p.Thr598=)
NM_022081.6(HPS4):c.1815_1816inv (p.His606Tyr)
NM_022081.6(HPS4):c.1818T>C (p.His606=)
NM_022081.6(HPS4):c.1821C>T (p.Tyr607=)
NM_022081.6(HPS4):c.1833G>A (p.Gln611=)
NM_022081.6(HPS4):c.183C>A (p.Val61=)
NM_022081.6(HPS4):c.1842G>C (p.Leu614=)
NM_022081.6(HPS4):c.1846+12C>A
NM_022081.6(HPS4):c.1846+13C>T
NM_022081.6(HPS4):c.1846+15A>C
NM_022081.6(HPS4):c.1846+17G>A
NM_022081.6(HPS4):c.1847-10C>A
NM_022081.6(HPS4):c.1847-10C>T
NM_022081.6(HPS4):c.1847-11T>A
NM_022081.6(HPS4):c.1847-17G>T
NM_022081.6(HPS4):c.1847-17_1847-15del
NM_022081.6(HPS4):c.1847-20_1847-19insG
NM_022081.6(HPS4):c.1852C>T (p.Leu618=)
NM_022081.6(HPS4):c.1854G>A (p.Leu618=)
NM_022081.6(HPS4):c.1857G>T (p.Pro619=)
NM_022081.6(HPS4):c.1869C>G (p.Thr623=)
NM_022081.6(HPS4):c.1869C>T (p.Thr623=)
NM_022081.6(HPS4):c.1872G>A (p.Pro624=)
NM_022081.6(HPS4):c.1872G>T (p.Pro624=) rs775986716
NM_022081.6(HPS4):c.1881C>T (p.Arg627=)
NM_022081.6(HPS4):c.1890C>G (p.Leu630=)
NM_022081.6(HPS4):c.1896C>A (p.Ala632=)
NM_022081.6(HPS4):c.1896C>T (p.Ala632=)
NM_022081.6(HPS4):c.18C>T (p.Ser6=)
NM_022081.6(HPS4):c.1902C>T (p.Ser634=)
NM_022081.6(HPS4):c.1905G>A (p.Leu635=)
NM_022081.6(HPS4):c.1923C>T (p.Ala641=)
NM_022081.6(HPS4):c.1926G>A (p.Gln642=)
NM_022081.6(HPS4):c.1932C>T (p.Pro644=)
NM_022081.6(HPS4):c.1935G>A (p.Ala645=) rs769678704
NM_022081.6(HPS4):c.1935G>T (p.Ala645=)
NM_022081.6(HPS4):c.1955+10C>T
NM_022081.6(HPS4):c.1955+11C>T
NM_022081.6(HPS4):c.1955+17C>G
NM_022081.6(HPS4):c.1955+17C>T
NM_022081.6(HPS4):c.1955+18G>C rs149340443
NM_022081.6(HPS4):c.1955+18G>T
NM_022081.6(HPS4):c.1955+5_1955+6dup
NM_022081.6(HPS4):c.1955+9C>T
NM_022081.6(HPS4):c.1956-13C>T
NM_022081.6(HPS4):c.1956-17_1956-16del
NM_022081.6(HPS4):c.1956-7C>T
NM_022081.6(HPS4):c.1965C>T (p.Ser655=)
NM_022081.6(HPS4):c.1968G>A (p.Thr656=)
NM_022081.6(HPS4):c.1971T>A (p.Ala657=)
NM_022081.6(HPS4):c.1971T>C (p.Ala657=)
NM_022081.6(HPS4):c.1980C>T (p.Ala660=)
NM_022081.6(HPS4):c.1995C>T (p.Ile665=)
NM_022081.6(HPS4):c.2017C>T (p.Leu673=)
NM_022081.6(HPS4):c.2025T>C (p.Pro675=)
NM_022081.6(HPS4):c.2037C>T (p.Ser679=)
NM_022081.6(HPS4):c.2046C>T (p.Phe682=)
NM_022081.6(HPS4):c.2064C>A (p.Gly688=)
NM_022081.6(HPS4):c.2064C>G (p.Gly688=)
NM_022081.6(HPS4):c.2064C>T (p.Gly688=)
NM_022081.6(HPS4):c.2070C>T (p.Phe690=)
NM_022081.6(HPS4):c.2073C>T (p.Ser691=)
NM_022081.6(HPS4):c.2076C>T (p.Leu692=)
NM_022081.6(HPS4):c.2088A>G (p.Ala696=)
NM_022081.6(HPS4):c.2091G>A (p.Lys697=)
NM_022081.6(HPS4):c.2109C>T (p.His703=)
NM_022081.6(HPS4):c.219T>G (p.Thr73=)
NM_022081.6(HPS4):c.270C>T (p.Tyr90=)
NM_022081.6(HPS4):c.273T>C (p.Leu91=)
NM_022081.6(HPS4):c.276+12G>A
NM_022081.6(HPS4):c.277-10C>G
NM_022081.6(HPS4):c.277-10C>T
NM_022081.6(HPS4):c.277-11dup
NM_022081.6(HPS4):c.277-12C>T
NM_022081.6(HPS4):c.277-19C>A
NM_022081.6(HPS4):c.277-4A>C
NM_022081.6(HPS4):c.277-4A>G
NM_022081.6(HPS4):c.277-8C>T
NM_022081.6(HPS4):c.285C>T (p.Gly95=)
NM_022081.6(HPS4):c.306T>C (p.Asp102=)
NM_022081.6(HPS4):c.309C>T (p.Val103=)
NM_022081.6(HPS4):c.315C>T (p.Cys105=)
NM_022081.6(HPS4):c.320G>T (p.Arg107Leu) rs138885334
NM_022081.6(HPS4):c.327G>C (p.Leu109=)
NM_022081.6(HPS4):c.375A>G (p.Leu125=)
NM_022081.6(HPS4):c.384+10T>C
NM_022081.6(HPS4):c.384+14G>A
NM_022081.6(HPS4):c.384+14G>T
NM_022081.6(HPS4):c.384+9A>G
NM_022081.6(HPS4):c.385-10dup
NM_022081.6(HPS4):c.385-16G>T
NM_022081.6(HPS4):c.385-17G>A
NM_022081.6(HPS4):c.393T>G (p.Ser131=)
NM_022081.6(HPS4):c.41+13G>A
NM_022081.6(HPS4):c.41+15C>T rs2147037860
NM_022081.6(HPS4):c.41+16T>G
NM_022081.6(HPS4):c.41+18C>T
NM_022081.6(HPS4):c.41+20A>G
NM_022081.6(HPS4):c.42-13G>T
NM_022081.6(HPS4):c.42-15C>G
NM_022081.6(HPS4):c.42-15C>T
NM_022081.6(HPS4):c.42-17C>T
NM_022081.6(HPS4):c.42-18A>G
NM_022081.6(HPS4):c.42-19dup
NM_022081.6(HPS4):c.42-397G>A
NM_022081.6(HPS4):c.42-4C>G
NM_022081.6(HPS4):c.42-5G>A
NM_022081.6(HPS4):c.42-5G>C
NM_022081.6(HPS4):c.432G>A (p.Glu144=)
NM_022081.6(HPS4):c.444A>G (p.Lys148=)
NM_022081.6(HPS4):c.457C>T (p.Leu153=)
NM_022081.6(HPS4):c.501+10T>G
NM_022081.6(HPS4):c.501+11C>T
NM_022081.6(HPS4):c.501+14C>T
NM_022081.6(HPS4):c.501+15C>A
NM_022081.6(HPS4):c.501+15C>T
NM_022081.6(HPS4):c.501+20T>C
NM_022081.6(HPS4):c.501+7T>C
NM_022081.6(HPS4):c.502-19T>C
NM_022081.6(HPS4):c.502-20A>T
NM_022081.6(HPS4):c.502-5C>A
NM_022081.6(HPS4):c.502-8C>G
NM_022081.6(HPS4):c.502-8C>T
NM_022081.6(HPS4):c.502-9C>T rs369719765
NM_022081.6(HPS4):c.511C>T (p.Leu171=)
NM_022081.6(HPS4):c.519G>A (p.Leu173=)
NM_022081.6(HPS4):c.531C>T (p.Ala177=)
NM_022081.6(HPS4):c.540G>A (p.Leu180=)
NM_022081.6(HPS4):c.540G>C (p.Leu180=)
NM_022081.6(HPS4):c.558G>T (p.Ser186=)
NM_022081.6(HPS4):c.573T>C (p.Ala191=)
NM_022081.6(HPS4):c.582C>T (p.Ile194=)
NM_022081.6(HPS4):c.596+10T>C
NM_022081.6(HPS4):c.596+12C>T
NM_022081.6(HPS4):c.596+17C>G
NM_022081.6(HPS4):c.596+18C>G
NM_022081.6(HPS4):c.596+19C>G
NM_022081.6(HPS4):c.597-14G>A
NM_022081.6(HPS4):c.597-18C>T
NM_022081.6(HPS4):c.597-5_597-3del
NM_022081.6(HPS4):c.609C>G (p.Thr203=)
NM_022081.6(HPS4):c.612A>G (p.Gln204=) rs1601962820
NM_022081.6(HPS4):c.621C>T (p.Pro207=)
NM_022081.6(HPS4):c.627C>T (p.Leu209=)
NM_022081.6(HPS4):c.630C>T (p.Thr210=)
NM_022081.6(HPS4):c.640C>T (p.Leu214=)
NM_022081.6(HPS4):c.642G>C (p.Leu214=)
NM_022081.6(HPS4):c.654A>G (p.Thr218=)
NM_022081.6(HPS4):c.669+12T>C
NM_022081.6(HPS4):c.669+13C>T
NM_022081.6(HPS4):c.669+15A>G
NM_022081.6(HPS4):c.66T>C (p.Asp22=)
NM_022081.6(HPS4):c.670-10T>G
NM_022081.6(HPS4):c.670-11T>C
NM_022081.6(HPS4):c.670-14G>A
NM_022081.6(HPS4):c.670-18GT[3]
NM_022081.6(HPS4):c.670-19T>C
NM_022081.6(HPS4):c.670-20C>T
NM_022081.6(HPS4):c.681G>A (p.Thr227=)
NM_022081.6(HPS4):c.686_687delinsGT (p.Glu229Gly)
NM_022081.6(HPS4):c.706+14C>T
NM_022081.6(HPS4):c.706+15G>A
NM_022081.6(HPS4):c.706+18T>C
NM_022081.6(HPS4):c.706+36G>A
NM_022081.6(HPS4):c.706+8G>A
NM_022081.6(HPS4):c.707-17T>C
NM_022081.6(HPS4):c.707-18A>G
NM_022081.6(HPS4):c.707-19T>C
NM_022081.6(HPS4):c.707-20A>C
NM_022081.6(HPS4):c.707-20A>G
NM_022081.6(HPS4):c.707-7A>T
NM_022081.6(HPS4):c.714A>G (p.Ala238=)
NM_022081.6(HPS4):c.717G>A (p.Leu239=)
NM_022081.6(HPS4):c.723G>A (p.Pro241=)
NM_022081.6(HPS4):c.729C>G (p.Val243=)
NM_022081.6(HPS4):c.729C>T (p.Val243=)
NM_022081.6(HPS4):c.735T>A (p.Ile245=)
NM_022081.6(HPS4):c.735T>C (p.Ile245=)
NM_022081.6(HPS4):c.768T>C (p.Ile256=)
NM_022081.6(HPS4):c.777C>T (p.His259=)
NM_022081.6(HPS4):c.786G>A (p.Pro262=)
NM_022081.6(HPS4):c.792A>G (p.Glu264=)
NM_022081.6(HPS4):c.795G>A (p.Gln265=)
NM_022081.6(HPS4):c.803+10dup
NM_022081.6(HPS4):c.803+11G>A
NM_022081.6(HPS4):c.803+12C>G
NM_022081.6(HPS4):c.803+15AG[2]
NM_022081.6(HPS4):c.803+18G>A
NM_022081.6(HPS4):c.803+19A>C
NM_022081.6(HPS4):c.804-11T>C
NM_022081.6(HPS4):c.804-12C>G
NM_022081.6(HPS4):c.804-16CT[2]
NM_022081.6(HPS4):c.804-19del
NM_022081.6(HPS4):c.804-20A>G
NM_022081.6(HPS4):c.804-5G>A
NM_022081.6(HPS4):c.804-8T>C
NM_022081.6(HPS4):c.804-9G>A
NM_022081.6(HPS4):c.819A>G (p.Pro273=)
NM_022081.6(HPS4):c.828C>T (p.Leu276=)
NM_022081.6(HPS4):c.840A>C (p.Ser280=)
NM_022081.6(HPS4):c.840A>G (p.Ser280=)
NM_022081.6(HPS4):c.84A>G (p.Glu28=)
NM_022081.6(HPS4):c.852T>C (p.His284=)
NM_022081.6(HPS4):c.860G>C (p.Gly287Ala) rs571151621
NM_022081.6(HPS4):c.861T>C (p.Gly287=)
NM_022081.6(HPS4):c.861T>G (p.Gly287=)
NM_022081.6(HPS4):c.864G>A (p.Gly288=)
NM_022081.6(HPS4):c.864G>C (p.Gly288=) rs752850564
NM_022081.6(HPS4):c.867C>T (p.Ser289=)
NM_022081.6(HPS4):c.897C>T (p.Gly299=)
NM_022081.6(HPS4):c.900T>C (p.His300=) rs1161694839
NM_022081.6(HPS4):c.90C>T (p.Gly30=)
NM_022081.6(HPS4):c.921C>A (p.Thr307=)
NM_022081.6(HPS4):c.921C>G (p.Thr307=)
NM_022081.6(HPS4):c.921C>T (p.Thr307=)
NM_022081.6(HPS4):c.936A>G (p.Thr312=)
NM_022081.6(HPS4):c.939C>T (p.Ser313=)
NM_022081.6(HPS4):c.942T>A (p.Pro314=)
NM_022081.6(HPS4):c.945C>T (p.Asp315=) rs146884025
NM_022081.6(HPS4):c.969G>A (p.Lys323=)
NM_022081.6(HPS4):c.975C>T (p.Asn325=)
NM_022081.6(HPS4):c.997C>T (p.Leu333=) rs770642869
NM_022081.6(HPS4):c.99A>G (p.Thr33=)
NM_022081.6(HPS4):c.9C>T (p.Thr3=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.