ClinVar Miner

List of variants in gene HPS4 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_022081.6(HPS4):c.1847-47A>G rs1894705 0.88008
NM_022081.6(HPS4):c.1816C>T (p.His606Tyr) rs1894706 0.86290
NM_022081.6(HPS4):c.1875G>T (p.Gln625His) rs1894704 0.86250
NM_022081.6(HPS4):c.706+39G>T rs739289 0.83516
NM_022081.6(HPS4):c.707-28T>C rs3213583 0.83408
NM_022081.6(HPS4):c.686A>G (p.Glu229Gly) rs713998 0.81679
NM_022081.6(HPS4):c.1654G>A (p.Val552Met) rs5752330 0.81665
NM_022081.6(HPS4):c.1327C>G (p.Leu443Val) rs2014410 0.35365
NM_022081.6(HPS4):c.42-49G>A rs9613187 0.06566
NM_022081.6(HPS4):c.558G>A (p.Ser186=) rs13054747 0.03591
NM_022081.6(HPS4):c.1899C>T (p.Val633=) rs35993959 0.01542
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.710C>T (p.Ala237Val) rs77597168 0.00411
NM_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675 0.00306
NM_022081.6(HPS4):c.15C>T (p.Thr5=) rs144622501 0.00193
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.*5C>T rs373741660 0.00072
NM_022081.6(HPS4):c.593G>A (p.Gly198Glu) rs199965734 0.00058
NM_022081.6(HPS4):c.704A>G (p.His235Arg) rs150166679 0.00040
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.1222G>A (p.Ala408Thr) rs143711674 0.00012
NM_022081.6(HPS4):c.1679C>T (p.Pro560Leu) rs143902143 0.00010
NM_022081.6(HPS4):c.1014C>T (p.Pro338=) rs188300485 0.00006
NM_022081.6(HPS4):c.1857G>A (p.Pro619=) rs373421312 0.00005
NM_022081.6(HPS4):c.13A>G (p.Thr5Ala) rs570371168 0.00004
NM_022081.6(HPS4):c.1177C>T (p.Pro393Ser) rs375526010 0.00002
NM_022081.6(HPS4):c.2079C>T (p.Ser693=) rs138189133 0.00002
NM_022081.6(HPS4):c.*39A>G
NM_022081.6(HPS4):c.1060_1061delinsAG (p.Ser354=) rs386820399
NM_022081.6(HPS4):c.1221C>T (p.Ser407=)
NM_022081.6(HPS4):c.150G>A (p.Gln50=)
NM_022081.6(HPS4):c.1614C>T (p.Leu538=)
NM_022081.6(HPS4):c.320G>T (p.Arg107Leu) rs138885334
NM_022081.6(HPS4):c.554G>A (p.Arg185His)
NM_022081.6(HPS4):c.609C>G (p.Thr203=)
NM_022081.6(HPS4):c.670-4T>G
NM_022081.6(HPS4):c.706+119T>C
NM_022081.6(HPS4):c.706+125A>G

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