ClinVar Miner

List of variants in gene HPS1 reported as likely pathogenic for Hermansky-Pudlak syndrome 1

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Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_000195.5(HPS1):c.1846G>A (p.Glu616Lys) rs775570414 0.00011
NM_000195.5(HPS1):c.1335+1G>A rs576459585 0.00001
NM_000195.5(HPS1):c.1744-2A>C rs281865088 0.00001
NM_000195.5(HPS1):c.1858-1G>A rs758797992 0.00001
NM_000195.5(HPS1):c.1940+2T>C rs972096803 0.00001
NM_000195.5(HPS1):c.814C>T (p.Gln272Ter) rs1846158787 0.00001
NM_000195.5(HPS1):c.987+1G>A rs913991716 0.00001
NM_000195.5(HPS1):c.988-1G>T rs764927038 0.00001
GRCh37/hg19 10q24.2(chr10:100202251-100203482)
NM_000195.5(HPS1):c.100G>T (p.Glu34Ter)
NM_000195.5(HPS1):c.1065del (p.Asn356fs) rs2538839145
NM_000195.5(HPS1):c.1084del (p.Cys362fs) rs2538838798
NM_000195.5(HPS1):c.1090del (p.Pro363_Leu364insTer)
NM_000195.5(HPS1):c.1138_1139dup (p.Val381fs) rs2538837526
NM_000195.5(HPS1):c.117+1G>A
NM_000195.5(HPS1):c.1172del (p.Leu391fs)
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1198del (p.Asp400fs) rs2538834658
NM_000195.5(HPS1):c.1219A>T (p.Lys407Ter) rs2538834370
NM_000195.5(HPS1):c.1276_1279dup (p.Asp427fs) rs1303126934
NM_000195.5(HPS1):c.1293_1297delinsT (p.Arg431fs) rs2538833174
NM_000195.5(HPS1):c.1344G>C (p.Trp448Cys) rs1845317249
NM_000195.5(HPS1):c.1405C>T (p.Gln469Ter) rs2538811120
NM_000195.5(HPS1):c.141dup (p.Ser48fs) rs2538995388
NM_000195.5(HPS1):c.1437C>A (p.Cys479Ter) rs552340796
NM_000195.5(HPS1):c.1440_1459del (p.Ile481fs) rs758028806
NM_000195.5(HPS1):c.1473dup (p.Ser492fs) rs1278834481
NM_000195.5(HPS1):c.1513C>T (p.Gln505Ter) rs769446880
NM_000195.5(HPS1):c.1519dup (p.Gln507fs) rs2538809395
NM_000195.5(HPS1):c.151_156delinsATCA (p.Leu51fs)
NM_000195.5(HPS1):c.1620_1624del (p.Leu541fs) rs2538792260
NM_000195.5(HPS1):c.1632C>A (p.Phe544Leu) rs748106098
NM_000195.5(HPS1):c.1657C>T (p.Gln553Ter) rs1591031929
NM_000195.5(HPS1):c.1771A>T (p.Arg591Ter) rs1040121123
NM_000195.5(HPS1):c.1773_1783delinsC (p.Arg591fs) rs2538760474
NM_000195.5(HPS1):c.1777del (p.Leu593fs) rs1330094451
NM_000195.5(HPS1):c.1780C>T (p.Gln594Ter) rs2538760501
NM_000195.5(HPS1):c.1837del (p.Leu613fs)
NM_000195.5(HPS1):c.1857+1G>A rs2136102397
NM_000195.5(HPS1):c.1925del (p.Gly642fs) rs2136083690
NM_000195.5(HPS1):c.1938_1939insG (p.Arg647fs) rs2136083495
NM_000195.5(HPS1):c.197C>A (p.Ser66Ter)
NM_000195.5(HPS1):c.1A>G (p.Met1Val)
NM_000195.5(HPS1):c.2029_2057del (p.Thr677fs) rs2538721769
NM_000195.5(HPS1):c.2095dup (p.Leu699fs) rs1844254450
NM_000195.5(HPS1):c.233_242del (p.Asn78fs) rs773323079
NM_000195.5(HPS1):c.256-2A>C
NM_000195.5(HPS1):c.298G>T (p.Glu100Ter) rs367873195
NM_000195.5(HPS1):c.2T>C (p.Met1Thr)
NM_000195.5(HPS1):c.310dup (p.Asp104fs) rs2538987319
NM_000195.5(HPS1):c.321dup (p.Lys108fs)
NM_000195.5(HPS1):c.322A>T (p.Lys108Ter) rs2538986887
NM_000195.5(HPS1):c.398+2T>G rs1486224265
NM_000195.5(HPS1):c.399-14G>A rs1260083432
NM_000195.5(HPS1):c.410del (p.Pro137fs) rs2538968028
NM_000195.5(HPS1):c.437G>A (p.Trp146Ter) rs2538967454
NM_000195.5(HPS1):c.484C>T (p.Gln162Ter) rs2538966402
NM_000195.5(HPS1):c.507+2T>G rs1591109881
NM_000195.5(HPS1):c.520del (p.Arg173_Leu174insTer)
NM_000195.5(HPS1):c.551_552del (p.Ile184fs) rs1591092841
NM_000195.5(HPS1):c.558_559del (p.Leu187fs)
NM_000195.5(HPS1):c.595_601del (p.Pro199fs) rs2538932095
NM_000195.5(HPS1):c.665_666del (p.Tyr221_Ser222insTer) rs2538930496
NM_000195.5(HPS1):c.668+1G>A rs766080221
NM_000195.5(HPS1):c.669-1G>C rs2538921531
NM_000195.5(HPS1):c.721del (p.Val241fs) rs2538920062
NM_000195.5(HPS1):c.766C>T (p.Gln256Ter) rs2538919005
NM_000195.5(HPS1):c.769-14_834del rs2538903848
NM_000195.5(HPS1):c.780dup (p.Arg261fs) rs2136197089
NM_000195.5(HPS1):c.807del (p.Val270fs) rs2538904841
NM_000195.5(HPS1):c.81del (p.Arg27_Leu28insTer) rs1938751649
NM_000195.5(HPS1):c.845_848delinsTGT (p.Thr282fs) rs2538903276
NM_000195.5(HPS1):c.847_848delinsTA (p.Gly283Ter) rs2538903245
NM_000195.5(HPS1):c.852del (p.Ser285fs) rs757883936
NM_000195.5(HPS1):c.868-15_877dup
NM_000195.5(HPS1):c.875_878del (p.Asp292fs) rs1846105381
NM_000195.5(HPS1):c.904_917dup (p.Pro307fs) rs760395614
NM_000195.5(HPS1):c.937+1G>A rs1846089676
NM_000195.5(HPS1):c.937G>A (p.Gly313Ser) rs962689701
NM_000195.5(HPS1):c.938-1G>A
NM_000195.5(HPS1):c.97_100del (p.Ser33fs) rs2136327710
NM_000195.5(HPS1):c.988-44_1023delinsT rs1591055649
NM_000195.5(HPS1):c.9C>A (p.Cys3Ter) rs750909242

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