ClinVar Miner

List of variants in gene HPS1 studied for not specified

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Gene type:
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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_000195.5(HPS1):c.636C>T (p.Leu212=) rs1801287 0.25851
NM_000195.5(HPS1):c.1599-15A>G rs2296435 0.21496
NM_000195.5(HPS1):c.1397+7G>C rs2296432 0.20947
NM_000195.5(HPS1):c.1397+8G>T rs2296433 0.20935
NM_000195.5(HPS1):c.399-35G>A rs11591594 0.12488
NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg) rs2296436 0.09989
NM_000195.5(HPS1):c.1335+48G>A rs41317034 0.09953
NM_000195.5(HPS1):c.297C>T (p.Thr99=) rs11539873 0.04930
NM_000195.5(HPS1):c.987+13T>C rs12571249 0.04438
NM_000195.5(HPS1):c.11T>C (p.Val4Ala) rs58548334 0.03653
NM_000195.5(HPS1):c.255+9A>G rs78927693 0.00885
NM_000195.5(HPS1):c.779G>A (p.Arg260Gln) rs56378825 0.00761
NM_000195.5(HPS1):c.1698G>A (p.Ser566=) rs148450315 0.00596
NM_000195.5(HPS1):c.27G>C (p.Glu9Asp) rs7914192 0.00426
NM_000195.5(HPS1):c.597C>T (p.Pro199=) rs113520308 0.00382
NM_000195.5(HPS1):c.*12C>T rs112544050 0.00352
NM_000195.5(HPS1):c.1683C>T (p.Cys561=) rs112337765 0.00297
NM_000195.5(HPS1):c.478C>T (p.Arg160Trp) rs142893758 0.00290
NM_000195.5(HPS1):c.678C>T (p.Ala226=) rs539822608 0.00155
NM_000195.5(HPS1):c.680G>T (p.Ser227Ile) rs548033666 0.00155
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile) rs139061260 0.00144
NM_000195.5(HPS1):c.669-17T>C rs201014731 0.00143
NM_000195.5(HPS1):c.1406A>G (p.Gln469Arg) rs148978269 0.00133
NM_000195.5(HPS1):c.557C>T (p.Ala186Val) rs1801286 0.00125
NM_000195.5(HPS1):c.1928G>A (p.Gly643Glu) rs148225281 0.00042
NM_000195.5(HPS1):c.15G>C (p.Leu5Phe) rs146695034 0.00031
NM_000195.5(HPS1):c.507+13C>T rs371779884 0.00022
NM_000195.5(HPS1):c.1533-5G>C rs369658421 0.00016
NM_000195.5(HPS1):c.1599-7C>A rs746169154 0.00010
NM_000195.5(HPS1):c.242A>T (p.Tyr81Phe) rs188320187 0.00010
NM_000195.5(HPS1):c.2066G>A (p.Arg689Gln) rs147125175 0.00007
NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr) rs138771756 0.00006
NM_000195.5(HPS1):c.695C>T (p.Ala232Val) rs764420988 0.00006
NM_000195.5(HPS1):c.2057A>G (p.Gln686Arg) rs372189642 0.00005
NM_000195.5(HPS1):c.1167G>A (p.Ala389=) rs775117501 0.00004
NM_000195.5(HPS1):c.389T>C (p.Ile130Thr) rs367640909 0.00004
NM_000195.5(HPS1):c.1239G>T (p.Pro413=) rs777125097 0.00003
NM_000195.5(HPS1):c.2052C>T (p.Ala684=) rs576260502 0.00002
NM_000195.5(HPS1):c.277G>A (p.Ala93Thr) rs574738945 0.00002
NM_000195.5(HPS1):c.472C>T (p.Arg158Cys) rs727505003 0.00001
NM_000195.5(HPS1):c.1397+7_1397+8delinsCT rs886038270
NM_000195.5(HPS1):c.1472C>G (p.Pro491Arg) rs2296434
NM_000195.5(HPS1):c.1527C>G (p.Leu509=) rs17109850
NM_000195.5(HPS1):c.1531C>A (p.Arg511=) rs147748659
NM_000195.5(HPS1):c.1718C>G (p.Pro573Arg) rs372351461
NM_000195.5(HPS1):c.1744-5C>T rs369429846
NM_000195.5(HPS1):c.655G>T (p.Ala219Ser) rs755619001
NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val) rs1554892764
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp) rs11592273
NM_000195.5(HPS1):c.848G>C (p.Gly283Ala) rs74154475

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